Canonical Allele Identifier: CA4292712

Gene: ELN

Linked Data

• dbSNP Id: rs782295899
• ExAC: 7:73466084 T / C
• gnomAD v2: 7-73466084-T-C
• gnomAD v3: 7-74051754-T-C
• gnomAD v4: 7-74051754-T-C
• MyVariant Identifiers: chr7:g.73466084T>C (hg19) ; chr7:g.74051754T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74051754T>C , CM000669.2:g.74051754T>C	GRCh38
NC_000007.13:g.73466084T>C , CM000669.1:g.73466084T>C	GRCh37
NC_000007.12:g.73104020T>C	NCBI36
NG_009261.1:g.28658T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000692049.1:c.804T>C	ENSP00000510104.1:p.Ala268=
ENST00000252034.12:c.804T>C MANE Select	ENSP00000252034.7:p.Ala268=
ENST00000252034.11:c.804T>C	ENSP00000252034.7:p.Ala268=
ENST00000320399.10:c.804T>C	ENSP00000313565.6:p.Ala268=
ENST00000320492.11:c.696T>C	ENSP00000315607.7:p.Ala232=
ENST00000357036.9:c.819T>C	ENSP00000349540.5:p.Ala273=
ENST00000358929.8:c.804T>C	ENSP00000351807.5:p.Ala268=
ENST00000380553.8:c.453T>C	ENSP00000369926.4:p.Ala151=
ENST00000380562.8:c.804T>C	ENSP00000369936.4:p.Ala268=
ENST00000380575.8:c.774T>C	ENSP00000369949.4:p.Ala258=
ENST00000380576.9:c.804T>C	ENSP00000369950.5:p.Ala268=
ENST00000380584.8:c.762T>C	ENSP00000369958.4:p.Ala254=
ENST00000414324.5:c.789T>C	ENSP00000392575.1:p.Ala263=
ENST00000429192.5:c.819T>C	ENSP00000391129.1:p.Ala273=
ENST00000438880.5:c.387T>C	ENSP00000389206.1:p.Ala129=
ENST00000438906.5:c.738T>C	ENSP00000406949.1:p.Ala246=
ENST00000445912.5:c.804T>C	ENSP00000389857.1:p.Ala268=
ENST00000458204.5:c.774T>C	ENSP00000403162.1:p.Ala258=
ENST00000493839.1:n.270T>C
ENST00000621115.4:c.672T>C	ENSP00000480955.1:p.Ala224=
NM_000501.3:c.804T>C	NP_000492.2:p.Ala268=
NM_001081752.2:c.774T>C	NP_001075221.1:p.Ala258=
NM_001081753.2:c.819T>C	NP_001075222.1:p.Ala273=
NM_001081754.2:c.819T>C	NP_001075223.1:p.Ala273=
NM_001081755.2:c.804T>C	NP_001075224.1:p.Ala268=
NM_001278912.1:c.804T>C	NP_001265841.1:p.Ala268=
NM_001278913.1:c.696T>C	NP_001265842.1:p.Ala232=
NM_001278914.1:c.789T>C	NP_001265843.1:p.Ala263=
NM_001278915.1:c.804T>C	NP_001265844.1:p.Ala268=
NM_001278916.1:c.762T>C	NP_001265845.1:p.Ala254=
NM_001278917.1:c.774T>C	NP_001265846.1:p.Ala258=
NM_001278918.1:c.672T>C	NP_001265847.1:p.Ala224=
NM_001278939.1:c.804T>C	NP_001265868.1:p.Ala268=
XM_005250187.1:c.768T>C	XP_005250244.1:p.Ala256=
XM_005250188.1:c.762T>C	XP_005250245.1:p.Ala254=
XM_011515868.1:c.819T>C	XP_011514170.1:p.Ala273=
XM_011515869.1:c.789T>C	XP_011514171.1:p.Ala263=
XM_011515870.1:c.783T>C	XP_011514172.1:p.Ala261=
XM_011515871.1:c.777T>C	XP_011514173.1:p.Ala259=
XM_011515872.1:c.819T>C	XP_011514174.1:p.Ala273=
XM_011515873.1:c.819T>C	XP_011514175.1:p.Ala273=
XM_011515874.1:c.753T>C	XP_011514176.1:p.Ala251=
XM_011515875.1:c.738T>C	XP_011514177.1:p.Ala246=
XM_011515876.1:c.819T>C	XP_011514178.1:p.Ala273=
XM_011515877.1:c.819T>C	XP_011514179.1:p.Ala273=
XM_005250187.2:c.768T>C	XP_005250244.1:p.Ala256=
XM_005250188.2:c.762T>C	XP_005250245.1:p.Ala254=
XM_011515868.2:c.819T>C	XP_011514170.1:p.Ala273=
XM_011515871.2:c.777T>C	XP_011514173.1:p.Ala259=
XM_011515872.2:c.819T>C	XP_011514174.1:p.Ala273=
XM_011515873.2:c.819T>C	XP_011514175.1:p.Ala273=
XM_011515875.2:c.738T>C	XP_011514177.1:p.Ala246=
XM_011515876.2:c.819T>C	XP_011514178.1:p.Ala273=
XM_011515877.2:c.819T>C	XP_011514179.1:p.Ala273=
XM_017011813.1:c.732T>C	XP_016867302.1:p.Ala244=
XM_017011814.2:c.777T>C	XP_016867303.1:p.Ala259=
NM_000501.4:c.804T>C MANE Select	NP_000492.2:p.Ala268=
NM_001081752.3:c.774T>C	NP_001075221.1:p.Ala258=
NM_001081753.3:c.819T>C	NP_001075222.1:p.Ala273=
NM_001081754.3:c.819T>C	NP_001075223.1:p.Ala273=
NM_001081755.3:c.804T>C	NP_001075224.1:p.Ala268=
NM_001278912.2:c.804T>C	NP_001265841.1:p.Ala268=
NM_001278913.2:c.696T>C	NP_001265842.1:p.Ala232=
NM_001278914.2:c.789T>C	NP_001265843.1:p.Ala263=
NM_001278915.2:c.804T>C	NP_001265844.1:p.Ala268=
NM_001278916.2:c.762T>C	NP_001265845.1:p.Ala254=
NM_001278917.2:c.774T>C	NP_001265846.1:p.Ala258=
NM_001278918.2:c.672T>C	NP_001265847.1:p.Ala224=
NM_001278939.2:c.804T>C	NP_001265868.1:p.Ala268=