Canonical Allele Identifier: CA4293247

Gene: ELN

Linked Data

• ClinVar Variation Id: 226631
• ClinVar RCV Id: RCV000221492 ; RCV000342594 ; RCV000376205 ; RCV000417622
• dbSNP Id: rs140425210
• ExAC: 7:73477524 G / A
• gnomAD v2: 7-73477524-G-A
• gnomAD v3: 7-74063194-G-A
• gnomAD v4: 7-74063194-G-A
• MyVariant Identifiers: chr7:g.73477524G>A (hg19) ; chr7:g.74063194G>A (hg38)
• PubMed: PMID:23401415

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74063194G>A , CM000669.2:g.74063194G>A	GRCh38
NC_000007.13:g.73477524G>A , CM000669.1:g.73477524G>A	GRCh37
NC_000007.12:g.73115460G>A	NCBI36
NG_009261.1:g.40098G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000692049.1:c.2014G>A	ENSP00000510104.1:p.Gly672Ser
ENST00000252034.12:c.1828G>A MANE Select	ENSP00000252034.7:p.Gly610Ser
ENST00000252034.11:c.1828G>A	ENSP00000252034.7:p.Gly610Ser
ENST00000320399.10:c.1927G>A	ENSP00000313565.6:p.Gly643Ser
ENST00000320492.11:c.1585G>A	ENSP00000315607.7:p.Gly529Ser
ENST00000357036.9:c.1843G>A	ENSP00000349540.5:p.Gly615Ser
ENST00000358929.8:c.2014G>A	ENSP00000351807.5:p.Gly672Ser
ENST00000380553.8:c.1420G>A	ENSP00000369926.4:p.Gly474Ser
ENST00000380562.8:c.1846G>A	ENSP00000369936.4:p.Gly616Ser
ENST00000380575.8:c.1741G>A	ENSP00000369949.4:p.Gly581Ser
ENST00000380576.9:c.1771G>A	ENSP00000369950.5:p.Gly591Ser
ENST00000380584.8:c.1684G>A	ENSP00000369958.4:p.Gly562Ser
ENST00000414324.5:c.1756G>A	ENSP00000392575.1:p.Gly586Ser
ENST00000429192.5:c.1786G>A	ENSP00000391129.1:p.Gly596Ser
ENST00000445912.5:c.1828G>A	ENSP00000389857.1:p.Gly610Ser
ENST00000458204.5:c.1798G>A	ENSP00000403162.1:p.Gly600Ser
ENST00000621115.4:c.1561G>A	ENSP00000480955.1:p.Gly521Ser
NM_000501.3:c.1828G>A	NP_000492.2:p.Gly610Ser
NM_001081752.2:c.1741G>A	NP_001075221.1:p.Gly581Ser
NM_001081753.2:c.1786G>A	NP_001075222.1:p.Gly596Ser
NM_001081754.2:c.1843G>A	NP_001075223.1:p.Gly615Ser
NM_001081755.2:c.1771G>A	NP_001075224.1:p.Gly591Ser
NM_001278912.1:c.1828G>A	NP_001265841.1:p.Gly610Ser
NM_001278913.1:c.1585G>A	NP_001265842.1:p.Gly529Ser
NM_001278914.1:c.1756G>A	NP_001265843.1:p.Gly586Ser
NM_001278915.1:c.1846G>A	NP_001265844.1:p.Gly616Ser
NM_001278916.1:c.1684G>A	NP_001265845.1:p.Gly562Ser
NM_001278917.1:c.1798G>A	NP_001265846.1:p.Gly600Ser
NM_001278918.1:c.1561G>A	NP_001265847.1:p.Gly521Ser
NM_001278939.1:c.2014G>A	NP_001265868.1:p.Gly672Ser
XM_005250187.1:c.1792G>A	XP_005250244.1:p.Gly598Ser
XM_005250188.1:c.1786G>A	XP_005250245.1:p.Gly596Ser
XM_011515868.1:c.1843G>A	XP_011514170.1:p.Gly615Ser
XM_011515869.1:c.1813G>A	XP_011514171.1:p.Gly605Ser
XM_011515870.1:c.1807G>A	XP_011514172.1:p.Gly603Ser
XM_011515871.1:c.1801G>A	XP_011514173.1:p.Gly601Ser
XM_011515872.1:c.1789G>A	XP_011514174.1:p.Gly597Ser
XM_011515873.1:c.1786G>A	XP_011514175.1:p.Gly596Ser
XM_011515874.1:c.1777G>A	XP_011514176.1:p.Gly593Ser
XM_011515875.1:c.1762G>A	XP_011514177.1:p.Gly588Ser
XM_011515876.1:c.1843G>A	XP_011514178.1:p.Gly615Ser
XM_011515877.1:c.1732G>A	XP_011514179.1:p.Gly578Ser
XM_005250187.2:c.1792G>A	XP_005250244.1:p.Gly598Ser
XM_005250188.2:c.1786G>A	XP_005250245.1:p.Gly596Ser
XM_011515868.2:c.1843G>A	XP_011514170.1:p.Gly615Ser
XM_011515871.2:c.1801G>A	XP_011514173.1:p.Gly601Ser
XM_011515872.2:c.1789G>A	XP_011514174.1:p.Gly597Ser
XM_011515873.2:c.1786G>A	XP_011514175.1:p.Gly596Ser
XM_011515875.2:c.1762G>A	XP_011514177.1:p.Gly588Ser
XM_011515876.2:c.1843G>A	XP_011514178.1:p.Gly615Ser
XM_011515877.2:c.1732G>A	XP_011514179.1:p.Gly578Ser
XM_017011813.1:c.1756G>A	XP_016867302.1:p.Gly586Ser
XM_017011814.2:c.1744G>A	XP_016867303.1:p.Gly582Ser
NM_000501.4:c.1828G>A MANE Select	NP_000492.2:p.Gly610Ser
NM_001081752.3:c.1741G>A	NP_001075221.1:p.Gly581Ser
NM_001081753.3:c.1786G>A	NP_001075222.1:p.Gly596Ser
NM_001081754.3:c.1843G>A	NP_001075223.1:p.Gly615Ser
NM_001081755.3:c.1771G>A	NP_001075224.1:p.Gly591Ser
NM_001278912.2:c.1828G>A	NP_001265841.1:p.Gly610Ser
NM_001278913.2:c.1585G>A	NP_001265842.1:p.Gly529Ser
NM_001278914.2:c.1756G>A	NP_001265843.1:p.Gly586Ser
NM_001278915.2:c.1846G>A	NP_001265844.1:p.Gly616Ser
NM_001278916.2:c.1684G>A	NP_001265845.1:p.Gly562Ser
NM_001278917.2:c.1798G>A	NP_001265846.1:p.Gly600Ser
NM_001278918.2:c.1561G>A	NP_001265847.1:p.Gly521Ser
NM_001278939.2:c.2014G>A	NP_001265868.1:p.Gly672Ser