Canonical Allele Identifier: CA4326709

Gene: ABCB4

Linked Data

• dbSNP Id: rs371227397
• ExAC: 7:87031573 T / C
• gnomAD v2: 7-87031573-T-C
• gnomAD v4: 7-87402257-T-C
• MyVariant Identifiers: chr7:g.87031573T>C (hg19) ; chr7:g.87402257T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402257T>C , CM000669.2:g.87402257T>C	GRCh38
NC_000007.13:g.87031573T>C , CM000669.1:g.87031573T>C	GRCh37
NC_000007.12:g.86869509T>C	NCBI36
NG_007118.1:g.83176A>G
NG_007118.2:g.83176A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3679A>G	ENSP00000352135.3:p.Ile1227Val
ENST00000649586.2:c.3679A>G MANE Select	ENSP00000496956.2:p.Ile1227Val
ENST00000265723.8:c.3700A>G	ENSP00000265723.4:p.Ile1234Val
ENST00000358400.7:c.3538A>G	ENSP00000351172.3:p.Ile1180Val
ENST00000359206.7:c.3679A>G	ENSP00000352135.3:p.Ile1227Val
ENST00000440025.1:c.113A>G
ENST00000453593.5:c.3538A>G	ENSP00000392983.1:p.Ile1180Val
ENST00000467983.1:n.291A>G
NM_000443.3:c.3679A>G	NP_000434.1:p.Ile1227Val
NM_018849.2:c.3700A>G	NP_061337.1:p.Ile1234Val
NM_018850.2:c.3538A>G	NP_061338.1:p.Ile1180Val
XM_011516308.1:c.3700A>G	XP_011514610.1:p.Ile1234Val
XM_011516309.1:c.3679A>G	XP_011514611.1:p.Ile1227Val
XM_011516310.1:c.3595A>G	XP_011514612.1:p.Ile1199Val
XM_011516311.1:c.3571A>G	XP_011514613.1:p.Ile1191Val
XM_011516312.1:c.3559A>G	XP_011514614.1:p.Ile1187Val
XM_011516313.1:c.3538A>G	XP_011514615.1:p.Ile1180Val
XM_011516314.1:c.3721A>G	XP_011514616.1:p.Ile1241Val
XM_011516315.1:c.3040A>G	XP_011514617.1:p.Ile1014Val
XM_011516308.3:c.3970A>G	XP_011514610.3:p.Ile1324Val
XM_011516309.3:c.3949A>G	XP_011514611.3:p.Ile1317Val
XM_011516310.3:c.3865A>G	XP_011514612.3:p.Ile1289Val
XM_011516311.3:c.3841A>G	XP_011514613.3:p.Ile1281Val
XM_011516312.3:c.3829A>G	XP_011514614.3:p.Ile1277Val
XM_011516313.3:c.3808A>G	XP_011514615.2:p.Ile1270Val
XM_011516315.3:c.3040A>G	XP_011514617.2:p.Ile1014Val
XM_017012323.2:c.3700A>G	XP_016867812.1:p.Ile1234Val
XR_001744809.2:n.4208A>G
NM_000443.4:c.3679A>G MANE Select	NP_000434.1:p.Ile1227Val
NM_018849.3:c.3700A>G	NP_061337.1:p.Ile1234Val
NM_018850.3:c.3538A>G	NP_061338.1:p.Ile1180Val