Canonical Allele Identifier: CA367889247

Gene: ELN

Linked Data

• ClinVar Variation Id: 1411399
• ClinVar RCV Id: RCV001942947
• dbSNP Id: rs1554685979
• gnomAD v2: 7-73477483-G-A
• gnomAD v4: 7-74063153-G-A
• MyVariant Identifiers: chr7:g.73477483G>A (hg19) ; chr7:g.74063153G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74063153G>A , CM000669.2:g.74063153G>A	GRCh38
NC_000007.13:g.73477483G>A , CM000669.1:g.73477483G>A	GRCh37
NC_000007.12:g.73115419G>A	NCBI36
NG_009261.1:g.40057G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692049.1:c.1973G>A	ENSP00000510104.1:p.Gly658Glu
ENST00000252034.12:c.1787G>A MANE Select	ENSP00000252034.7:p.Gly596Glu
ENST00000252034.11:c.1787G>A	ENSP00000252034.7:p.Gly596Glu
ENST00000320399.10:c.1886G>A	ENSP00000313565.6:p.Gly629Glu
ENST00000320492.11:c.1544G>A	ENSP00000315607.7:p.Gly515Glu
ENST00000357036.9:c.1802G>A	ENSP00000349540.5:p.Gly601Glu
ENST00000358929.8:c.1973G>A	ENSP00000351807.5:p.Gly658Glu
ENST00000380553.8:c.1379G>A	ENSP00000369926.4:p.Gly460Glu
ENST00000380562.8:c.1805G>A	ENSP00000369936.4:p.Gly602Glu
ENST00000380575.8:c.1700G>A	ENSP00000369949.4:p.Gly567Glu
ENST00000380576.9:c.1730G>A	ENSP00000369950.5:p.Gly577Glu
ENST00000380584.8:c.1643G>A	ENSP00000369958.4:p.Gly548Glu
ENST00000414324.5:c.1715G>A	ENSP00000392575.1:p.Gly572Glu
ENST00000429192.5:c.1745G>A	ENSP00000391129.1:p.Gly582Glu
ENST00000445912.5:c.1787G>A	ENSP00000389857.1:p.Gly596Glu
ENST00000458204.5:c.1757G>A	ENSP00000403162.1:p.Gly586Glu
ENST00000621115.4:c.1520G>A	ENSP00000480955.1:p.Gly507Glu
NM_000501.3:c.1787G>A	NP_000492.2:p.Gly596Glu
NM_001081752.2:c.1700G>A	NP_001075221.1:p.Gly567Glu
NM_001081753.2:c.1745G>A	NP_001075222.1:p.Gly582Glu
NM_001081754.2:c.1802G>A	NP_001075223.1:p.Gly601Glu
NM_001081755.2:c.1730G>A	NP_001075224.1:p.Gly577Glu
NM_001278912.1:c.1787G>A	NP_001265841.1:p.Gly596Glu
NM_001278913.1:c.1544G>A	NP_001265842.1:p.Gly515Glu
NM_001278914.1:c.1715G>A	NP_001265843.1:p.Gly572Glu
NM_001278915.1:c.1805G>A	NP_001265844.1:p.Gly602Glu
NM_001278916.1:c.1643G>A	NP_001265845.1:p.Gly548Glu
NM_001278917.1:c.1757G>A	NP_001265846.1:p.Gly586Glu
NM_001278918.1:c.1520G>A	NP_001265847.1:p.Gly507Glu
NM_001278939.1:c.1973G>A	NP_001265868.1:p.Gly658Glu
XM_005250187.1:c.1751G>A	XP_005250244.1:p.Gly584Glu
XM_005250188.1:c.1745G>A	XP_005250245.1:p.Gly582Glu
XM_011515868.1:c.1802G>A	XP_011514170.1:p.Gly601Glu
XM_011515869.1:c.1772G>A	XP_011514171.1:p.Gly591Glu
XM_011515870.1:c.1766G>A	XP_011514172.1:p.Gly589Glu
XM_011515871.1:c.1760G>A	XP_011514173.1:p.Gly587Glu
XM_011515872.1:c.1748G>A	XP_011514174.1:p.Gly583Glu
XM_011515873.1:c.1745G>A	XP_011514175.1:p.Gly582Glu
XM_011515874.1:c.1736G>A	XP_011514176.1:p.Gly579Glu
XM_011515875.1:c.1721G>A	XP_011514177.1:p.Gly574Glu
XM_011515876.1:c.1802G>A	XP_011514178.1:p.Gly601Glu
XM_011515877.1:c.1691G>A	XP_011514179.1:p.Gly564Glu
XM_005250187.2:c.1751G>A	XP_005250244.1:p.Gly584Glu
XM_005250188.2:c.1745G>A	XP_005250245.1:p.Gly582Glu
XM_011515868.2:c.1802G>A	XP_011514170.1:p.Gly601Glu
XM_011515871.2:c.1760G>A	XP_011514173.1:p.Gly587Glu
XM_011515872.2:c.1748G>A	XP_011514174.1:p.Gly583Glu
XM_011515873.2:c.1745G>A	XP_011514175.1:p.Gly582Glu
XM_011515875.2:c.1721G>A	XP_011514177.1:p.Gly574Glu
XM_011515876.2:c.1802G>A	XP_011514178.1:p.Gly601Glu
XM_011515877.2:c.1691G>A	XP_011514179.1:p.Gly564Glu
XM_017011813.1:c.1715G>A	XP_016867302.1:p.Gly572Glu
XM_017011814.2:c.1703G>A	XP_016867303.1:p.Gly568Glu
NM_000501.4:c.1787G>A MANE Select	NP_000492.2:p.Gly596Glu
NM_001081752.3:c.1700G>A	NP_001075221.1:p.Gly567Glu
NM_001081753.3:c.1745G>A	NP_001075222.1:p.Gly582Glu
NM_001081754.3:c.1802G>A	NP_001075223.1:p.Gly601Glu
NM_001081755.3:c.1730G>A	NP_001075224.1:p.Gly577Glu
NM_001278912.2:c.1787G>A	NP_001265841.1:p.Gly596Glu
NM_001278913.2:c.1544G>A	NP_001265842.1:p.Gly515Glu
NM_001278914.2:c.1715G>A	NP_001265843.1:p.Gly572Glu
NM_001278915.2:c.1805G>A	NP_001265844.1:p.Gly602Glu
NM_001278916.2:c.1643G>A	NP_001265845.1:p.Gly548Glu
NM_001278917.2:c.1757G>A	NP_001265846.1:p.Gly586Glu
NM_001278918.2:c.1520G>A	NP_001265847.1:p.Gly507Glu
NM_001278939.2:c.1973G>A	NP_001265868.1:p.Gly658Glu