Canonical Allele Identifier: CA4293089

Gene: ELN ELN-AS1

Linked Data

• ClinVar Variation Id: 423742
• ClinVar RCV Id: RCV000478684 ; RCV002470874 ; RCV002526957 ; RCV002525947
• dbSNP Id: rs372788076
• ExAC: 7:73474338 G / A
• gnomAD v2: 7-73474338-G-A
• gnomAD v3: 7-74060008-G-A
• gnomAD v4: 7-74060008-G-A
• COSMIC: COSM1292541 ; COSM3640438
• MyVariant Identifiers: chr7:g.73474338G>A (hg19) ; chr7:g.74060008G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74060008G>A , CM000669.2:g.74060008G>A	GRCh38
NC_000007.13:g.73474338G>A , CM000669.1:g.73474338G>A	GRCh37
NC_000007.12:g.73112274G>A	NCBI36
NG_009261.1:g.36912G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692049.1:c.1624G>A (ELN)	ENSP00000510104.1:p.Val542Ile
ENST00000252034.12:c.1537G>A (ELN) MANE Select	ENSP00000252034.7:p.Val513Ile
ENST00000252034.11:c.1537G>A (ELN)	ENSP00000252034.7:p.Val513Ile
ENST00000320399.10:c.1537G>A (ELN)	ENSP00000313565.6:p.Val513Ile
ENST00000320492.11:c.1294G>A (ELN)	ENSP00000315607.7:p.Val432Ile
ENST00000357036.9:c.1552G>A (ELN)	ENSP00000349540.5:p.Val518Ile
ENST00000358929.8:c.1624G>A (ELN)	ENSP00000351807.5:p.Val542Ile
ENST00000380553.8:c.1129G>A (ELN)	ENSP00000369926.4:p.Val377Ile
ENST00000380562.8:c.1555G>A (ELN)	ENSP00000369936.4:p.Val519Ile
ENST00000380575.8:c.1450G>A (ELN)	ENSP00000369949.4:p.Val484Ile
ENST00000380576.9:c.1480G>A (ELN)	ENSP00000369950.5:p.Val494Ile
ENST00000380584.8:c.1438G>A (ELN)	ENSP00000369958.4:p.Val480Ile
ENST00000414324.5:c.1465G>A (ELN)	ENSP00000392575.1:p.Val489Ile
ENST00000429192.5:c.1495G>A (ELN)	ENSP00000391129.1:p.Val499Ile
ENST00000445912.5:c.1537G>A (ELN)	ENSP00000389857.1:p.Val513Ile
ENST00000458204.5:c.1507G>A (ELN)	ENSP00000403162.1:p.Val503Ile
ENST00000621115.4:c.1270G>A (ELN)	ENSP00000480955.1:p.Val424Ile
NM_000501.3:c.1537G>A (ELN)	NP_000492.2:p.Val513Ile
NM_001081752.2:c.1450G>A (ELN)	NP_001075221.1:p.Val484Ile
NM_001081753.2:c.1495G>A (ELN)	NP_001075222.1:p.Val499Ile
NM_001081754.2:c.1552G>A (ELN)	NP_001075223.1:p.Val518Ile
NM_001081755.2:c.1480G>A (ELN)	NP_001075224.1:p.Val494Ile
NM_001278912.1:c.1537G>A (ELN)	NP_001265841.1:p.Val513Ile
NM_001278913.1:c.1294G>A (ELN)	NP_001265842.1:p.Val432Ile
NM_001278914.1:c.1465G>A (ELN)	NP_001265843.1:p.Val489Ile
NM_001278915.1:c.1555G>A (ELN)	NP_001265844.1:p.Val519Ile
NM_001278916.1:c.1438G>A (ELN)	NP_001265845.1:p.Val480Ile
NM_001278917.1:c.1507G>A (ELN)	NP_001265846.1:p.Val503Ile
NM_001278918.1:c.1270G>A (ELN)	NP_001265847.1:p.Val424Ile
NM_001278939.1:c.1624G>A (ELN)	NP_001265868.1:p.Val542Ile
XM_005250187.1:c.1501G>A (ELN)	XP_005250244.1:p.Val501Ile
XM_005250188.1:c.1495G>A (ELN)	XP_005250245.1:p.Val499Ile
XM_011515868.1:c.1552G>A (ELN)	XP_011514170.1:p.Val518Ile
XM_011515869.1:c.1522G>A (ELN)	XP_011514171.1:p.Val508Ile
XM_011515870.1:c.1516G>A (ELN)	XP_011514172.1:p.Val506Ile
XM_011515871.1:c.1510G>A (ELN)	XP_011514173.1:p.Val504Ile
XM_011515872.1:c.1498G>A (ELN)	XP_011514174.1:p.Val500Ile
XM_011515873.1:c.1495G>A (ELN)	XP_011514175.1:p.Val499Ile
XM_011515874.1:c.1486G>A (ELN)	XP_011514176.1:p.Val496Ile
XM_011515875.1:c.1471G>A (ELN)	XP_011514177.1:p.Val491Ile
XM_011515876.1:c.1552G>A (ELN)	XP_011514178.1:p.Val518Ile
XM_011515877.1:c.1441G>A (ELN)	XP_011514179.1:p.Val481Ile
XM_005250187.2:c.1501G>A (ELN)	XP_005250244.1:p.Val501Ile
XM_005250188.2:c.1495G>A (ELN)	XP_005250245.1:p.Val499Ile
XM_011515868.2:c.1552G>A (ELN)	XP_011514170.1:p.Val518Ile
XM_011515871.2:c.1510G>A (ELN)	XP_011514173.1:p.Val504Ile
XM_011515872.2:c.1498G>A (ELN)	XP_011514174.1:p.Val500Ile
XM_011515873.2:c.1495G>A (ELN)	XP_011514175.1:p.Val499Ile
XM_011515875.2:c.1471G>A (ELN)	XP_011514177.1:p.Val491Ile
XM_011515876.2:c.1552G>A (ELN)	XP_011514178.1:p.Val518Ile
XM_011515877.2:c.1441G>A (ELN)	XP_011514179.1:p.Val481Ile
XM_017011813.1:c.1465G>A (ELN)	XP_016867302.1:p.Val489Ile
XM_017011814.2:c.1453G>A (ELN)	XP_016867303.1:p.Val485Ile
XR_001745243.1:n.100C>T (ELN-AS1)
NM_000501.4:c.1537G>A (ELN) MANE Select	NP_000492.2:p.Val513Ile
NM_001081752.3:c.1450G>A (ELN)	NP_001075221.1:p.Val484Ile
NM_001081753.3:c.1495G>A (ELN)	NP_001075222.1:p.Val499Ile
NM_001081754.3:c.1552G>A (ELN)	NP_001075223.1:p.Val518Ile
NM_001081755.3:c.1480G>A (ELN)	NP_001075224.1:p.Val494Ile
NM_001278912.2:c.1537G>A (ELN)	NP_001265841.1:p.Val513Ile
NM_001278913.2:c.1294G>A (ELN)	NP_001265842.1:p.Val432Ile
NM_001278914.2:c.1465G>A (ELN)	NP_001265843.1:p.Val489Ile
NM_001278915.2:c.1555G>A (ELN)	NP_001265844.1:p.Val519Ile
NM_001278916.2:c.1438G>A (ELN)	NP_001265845.1:p.Val480Ile
NM_001278917.2:c.1507G>A (ELN)	NP_001265846.1:p.Val503Ile
NM_001278918.2:c.1270G>A (ELN)	NP_001265847.1:p.Val424Ile
NM_001278939.2:c.1624G>A (ELN)	NP_001265868.1:p.Val542Ile