Canonical Allele Identifier: CA4293243

Gene: ELN

Linked Data

• ClinVar Variation Id: 360657
• ClinVar RCV Id: RCV000272405 ; RCV000325150 ; RCV001824310
• dbSNP Id: rs144835575
• ExAC: 7:73477517 G / C
• gnomAD v2: 7-73477517-G-C
• gnomAD v3: 7-74063187-G-C
• gnomAD v4: 7-74063187-G-C
• MyVariant Identifiers: chr7:g.73477517G>C (hg19) ; chr7:g.74063187G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74063187G>C , CM000669.2:g.74063187G>C	GRCh38
NC_000007.13:g.73477517G>C , CM000669.1:g.73477517G>C	GRCh37
NC_000007.12:g.73115453G>C	NCBI36
NG_009261.1:g.40091G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692049.1:c.2007G>C	ENSP00000510104.1:p.Gly669=
ENST00000252034.12:c.1821G>C MANE Select	ENSP00000252034.7:p.Gly607=
ENST00000252034.11:c.1821G>C	ENSP00000252034.7:p.Gly607=
ENST00000320399.10:c.1920G>C	ENSP00000313565.6:p.Gly640=
ENST00000320492.11:c.1578G>C	ENSP00000315607.7:p.Gly526=
ENST00000357036.9:c.1836G>C	ENSP00000349540.5:p.Gly612=
ENST00000358929.8:c.2007G>C	ENSP00000351807.5:p.Gly669=
ENST00000380553.8:c.1413G>C	ENSP00000369926.4:p.Gly471=
ENST00000380562.8:c.1839G>C	ENSP00000369936.4:p.Gly613=
ENST00000380575.8:c.1734G>C	ENSP00000369949.4:p.Gly578=
ENST00000380576.9:c.1764G>C	ENSP00000369950.5:p.Gly588=
ENST00000380584.8:c.1677G>C	ENSP00000369958.4:p.Gly559=
ENST00000414324.5:c.1749G>C	ENSP00000392575.1:p.Gly583=
ENST00000429192.5:c.1779G>C	ENSP00000391129.1:p.Gly593=
ENST00000445912.5:c.1821G>C	ENSP00000389857.1:p.Gly607=
ENST00000458204.5:c.1791G>C	ENSP00000403162.1:p.Gly597=
ENST00000621115.4:c.1554G>C	ENSP00000480955.1:p.Gly518=
NM_000501.3:c.1821G>C	NP_000492.2:p.Gly607=
NM_001081752.2:c.1734G>C	NP_001075221.1:p.Gly578=
NM_001081753.2:c.1779G>C	NP_001075222.1:p.Gly593=
NM_001081754.2:c.1836G>C	NP_001075223.1:p.Gly612=
NM_001081755.2:c.1764G>C	NP_001075224.1:p.Gly588=
NM_001278912.1:c.1821G>C	NP_001265841.1:p.Gly607=
NM_001278913.1:c.1578G>C	NP_001265842.1:p.Gly526=
NM_001278914.1:c.1749G>C	NP_001265843.1:p.Gly583=
NM_001278915.1:c.1839G>C	NP_001265844.1:p.Gly613=
NM_001278916.1:c.1677G>C	NP_001265845.1:p.Gly559=
NM_001278917.1:c.1791G>C	NP_001265846.1:p.Gly597=
NM_001278918.1:c.1554G>C	NP_001265847.1:p.Gly518=
NM_001278939.1:c.2007G>C	NP_001265868.1:p.Gly669=
XM_005250187.1:c.1785G>C	XP_005250244.1:p.Gly595=
XM_005250188.1:c.1779G>C	XP_005250245.1:p.Gly593=
XM_011515868.1:c.1836G>C	XP_011514170.1:p.Gly612=
XM_011515869.1:c.1806G>C	XP_011514171.1:p.Gly602=
XM_011515870.1:c.1800G>C	XP_011514172.1:p.Gly600=
XM_011515871.1:c.1794G>C	XP_011514173.1:p.Gly598=
XM_011515872.1:c.1782G>C	XP_011514174.1:p.Gly594=
XM_011515873.1:c.1779G>C	XP_011514175.1:p.Gly593=
XM_011515874.1:c.1770G>C	XP_011514176.1:p.Gly590=
XM_011515875.1:c.1755G>C	XP_011514177.1:p.Gly585=
XM_011515876.1:c.1836G>C	XP_011514178.1:p.Gly612=
XM_011515877.1:c.1725G>C	XP_011514179.1:p.Gly575=
XM_005250187.2:c.1785G>C	XP_005250244.1:p.Gly595=
XM_005250188.2:c.1779G>C	XP_005250245.1:p.Gly593=
XM_011515868.2:c.1836G>C	XP_011514170.1:p.Gly612=
XM_011515871.2:c.1794G>C	XP_011514173.1:p.Gly598=
XM_011515872.2:c.1782G>C	XP_011514174.1:p.Gly594=
XM_011515873.2:c.1779G>C	XP_011514175.1:p.Gly593=
XM_011515875.2:c.1755G>C	XP_011514177.1:p.Gly585=
XM_011515876.2:c.1836G>C	XP_011514178.1:p.Gly612=
XM_011515877.2:c.1725G>C	XP_011514179.1:p.Gly575=
XM_017011813.1:c.1749G>C	XP_016867302.1:p.Gly583=
XM_017011814.2:c.1737G>C	XP_016867303.1:p.Gly579=
NM_000501.4:c.1821G>C MANE Select	NP_000492.2:p.Gly607=
NM_001081752.3:c.1734G>C	NP_001075221.1:p.Gly578=
NM_001081753.3:c.1779G>C	NP_001075222.1:p.Gly593=
NM_001081754.3:c.1836G>C	NP_001075223.1:p.Gly612=
NM_001081755.3:c.1764G>C	NP_001075224.1:p.Gly588=
NM_001278912.2:c.1821G>C	NP_001265841.1:p.Gly607=
NM_001278913.2:c.1578G>C	NP_001265842.1:p.Gly526=
NM_001278914.2:c.1749G>C	NP_001265843.1:p.Gly583=
NM_001278915.2:c.1839G>C	NP_001265844.1:p.Gly613=
NM_001278916.2:c.1677G>C	NP_001265845.1:p.Gly559=
NM_001278917.2:c.1791G>C	NP_001265846.1:p.Gly597=
NM_001278918.2:c.1554G>C	NP_001265847.1:p.Gly518=
NM_001278939.2:c.2007G>C	NP_001265868.1:p.Gly669=