Canonical Allele Identifier: CA367881373

Gene: ELN

Linked Data

• ClinVar Variation Id: 2278448
• ClinVar RCV Id: RCV002822887
• dbSNP Id: rs1794877585
• gnomAD v4: 7-74054716-G-A
• MyVariant Identifiers: chr7:g.73469046G>A (hg19) ; chr7:g.74054716G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74054716G>A , CM000669.2:g.74054716G>A	GRCh38
NC_000007.13:g.73469046G>A , CM000669.1:g.73469046G>A	GRCh37
NC_000007.12:g.73106982G>A	NCBI36
NG_009261.1:g.31620G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692049.1:c.1097G>A	ENSP00000510104.1:p.Gly366Glu
ENST00000252034.12:c.1097G>A MANE Select	ENSP00000252034.7:p.Gly366Glu
ENST00000252034.11:c.1097G>A	ENSP00000252034.7:p.Gly366Glu
ENST00000320399.10:c.1097G>A	ENSP00000313565.6:p.Gly366Glu
ENST00000320492.11:c.989G>A	ENSP00000315607.7:p.Gly330Glu
ENST00000357036.9:c.1112G>A	ENSP00000349540.5:p.Gly371Glu
ENST00000358929.8:c.1097G>A	ENSP00000351807.5:p.Gly366Glu
ENST00000380553.8:c.746G>A	ENSP00000369926.4:p.Gly249Glu
ENST00000380562.8:c.1097G>A	ENSP00000369936.4:p.Gly366Glu
ENST00000380575.8:c.1067G>A	ENSP00000369949.4:p.Gly356Glu
ENST00000380576.9:c.1097G>A	ENSP00000369950.5:p.Gly366Glu
ENST00000380584.8:c.1055G>A	ENSP00000369958.4:p.Gly352Glu
ENST00000414324.5:c.1082G>A	ENSP00000392575.1:p.Gly361Glu
ENST00000429192.5:c.1112G>A	ENSP00000391129.1:p.Gly371Glu
ENST00000445912.5:c.1097G>A	ENSP00000389857.1:p.Gly366Glu
ENST00000458204.5:c.1067G>A	ENSP00000403162.1:p.Gly356Glu
ENST00000466878.5:n.416G>A
ENST00000492210.1:n.460G>A
ENST00000621115.4:c.965G>A	ENSP00000480955.1:p.Gly322Glu
NM_000501.3:c.1097G>A	NP_000492.2:p.Gly366Glu
NM_001081752.2:c.1067G>A	NP_001075221.1:p.Gly356Glu
NM_001081753.2:c.1112G>A	NP_001075222.1:p.Gly371Glu
NM_001081754.2:c.1112G>A	NP_001075223.1:p.Gly371Glu
NM_001081755.2:c.1097G>A	NP_001075224.1:p.Gly366Glu
NM_001278912.1:c.1097G>A	NP_001265841.1:p.Gly366Glu
NM_001278913.1:c.989G>A	NP_001265842.1:p.Gly330Glu
NM_001278914.1:c.1082G>A	NP_001265843.1:p.Gly361Glu
NM_001278915.1:c.1097G>A	NP_001265844.1:p.Gly366Glu
NM_001278916.1:c.1055G>A	NP_001265845.1:p.Gly352Glu
NM_001278917.1:c.1067G>A	NP_001265846.1:p.Gly356Glu
NM_001278918.1:c.965G>A	NP_001265847.1:p.Gly322Glu
NM_001278939.1:c.1097G>A	NP_001265868.1:p.Gly366Glu
XM_005250187.1:c.1061G>A	XP_005250244.1:p.Gly354Glu
XM_005250188.1:c.1055G>A	XP_005250245.1:p.Gly352Glu
XM_011515868.1:c.1112G>A	XP_011514170.1:p.Gly371Glu
XM_011515869.1:c.1082G>A	XP_011514171.1:p.Gly361Glu
XM_011515870.1:c.1076G>A	XP_011514172.1:p.Gly359Glu
XM_011515871.1:c.1070G>A	XP_011514173.1:p.Gly357Glu
XM_011515872.1:c.1111+1407G>A	XP_011514174.1:n.1111+1407G>A
XM_011515873.1:c.1112G>A	XP_011514175.1:p.Gly371Glu
XM_011515874.1:c.1046G>A	XP_011514176.1:p.Gly349Glu
XM_011515875.1:c.1031G>A	XP_011514177.1:p.Gly344Glu
XM_011515876.1:c.1112G>A	XP_011514178.1:p.Gly371Glu
XM_011515877.1:c.1111+1407G>A	XP_011514179.1:n.1111+1407G>A
XM_005250187.2:c.1061G>A	XP_005250244.1:p.Gly354Glu
XM_005250188.2:c.1055G>A	XP_005250245.1:p.Gly352Glu
XM_011515868.2:c.1112G>A	XP_011514170.1:p.Gly371Glu
XM_011515871.2:c.1070G>A	XP_011514173.1:p.Gly357Glu
XM_011515872.2:c.1111+1407G>A	XP_011514174.1:n.1111+1407G>A
XM_011515873.2:c.1112G>A	XP_011514175.1:p.Gly371Glu
XM_011515875.2:c.1031G>A	XP_011514177.1:p.Gly344Glu
XM_011515876.2:c.1112G>A	XP_011514178.1:p.Gly371Glu
XM_011515877.2:c.1111+1407G>A	XP_011514179.1:n.1111+1407G>A
XM_017011813.1:c.1025G>A	XP_016867302.1:p.Gly342Glu
XM_017011814.2:c.1070G>A	XP_016867303.1:p.Gly357Glu
NM_000501.4:c.1097G>A MANE Select	NP_000492.2:p.Gly366Glu
NM_001081752.3:c.1067G>A	NP_001075221.1:p.Gly356Glu
NM_001081753.3:c.1112G>A	NP_001075222.1:p.Gly371Glu
NM_001081754.3:c.1112G>A	NP_001075223.1:p.Gly371Glu
NM_001081755.3:c.1097G>A	NP_001075224.1:p.Gly366Glu
NM_001278912.2:c.1097G>A	NP_001265841.1:p.Gly366Glu
NM_001278913.2:c.989G>A	NP_001265842.1:p.Gly330Glu
NM_001278914.2:c.1082G>A	NP_001265843.1:p.Gly361Glu
NM_001278915.2:c.1097G>A	NP_001265844.1:p.Gly366Glu
NM_001278916.2:c.1055G>A	NP_001265845.1:p.Gly352Glu
NM_001278917.2:c.1067G>A	NP_001265846.1:p.Gly356Glu
NM_001278918.2:c.965G>A	NP_001265847.1:p.Gly322Glu
NM_001278939.2:c.1097G>A	NP_001265868.1:p.Gly366Glu