Canonical Allele Identifier: CA456356155

Gene: ABCB4

Linked Data

• dbSNP Id: rs1257215443
• gnomAD v2: 7-87031523-C-G
• gnomAD v3: 7-87402207-C-G
• gnomAD v4: 7-87402207-C-G
• MyVariant Identifiers: chr7:g.87031523C>G (hg19) ; chr7:g.87402207C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402207C>G , CM000669.2:g.87402207C>G	GRCh38
NC_000007.13:g.87031523C>G , CM000669.1:g.87031523C>G	GRCh37
NC_000007.12:g.86869459C>G	NCBI36
NG_007118.1:g.83226G>C
NG_007118.2:g.83226G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3729G>C	ENSP00000352135.3:p.Val1243=
ENST00000649586.2:c.3729G>C MANE Select	ENSP00000496956.2:p.Val1243=
ENST00000265723.8:c.3750G>C	ENSP00000265723.4:p.Val1250=
ENST00000358400.7:c.3588G>C	ENSP00000351172.3:p.Val1196=
ENST00000359206.7:c.3729G>C	ENSP00000352135.3:p.Val1243=
ENST00000440025.1:c.163G>C
ENST00000453593.5:c.3588G>C	ENSP00000392983.1:p.Val1196=
ENST00000467983.1:n.341G>C
NM_000443.3:c.3729G>C	NP_000434.1:p.Val1243=
NM_018849.2:c.3750G>C	NP_061337.1:p.Val1250=
NM_018850.2:c.3588G>C	NP_061338.1:p.Val1196=
XM_011516308.1:c.3750G>C	XP_011514610.1:p.Val1250=
XM_011516309.1:c.3729G>C	XP_011514611.1:p.Val1243=
XM_011516310.1:c.3645G>C	XP_011514612.1:p.Val1215=
XM_011516311.1:c.3621G>C	XP_011514613.1:p.Val1207=
XM_011516312.1:c.3609G>C	XP_011514614.1:p.Val1203=
XM_011516313.1:c.3588G>C	XP_011514615.1:p.Val1196=
XM_011516314.1:c.3771G>C	XP_011514616.1:p.Val1257=
XM_011516315.1:c.3090G>C	XP_011514617.1:p.Val1030=
XM_011516308.3:c.4020G>C	XP_011514610.3:p.Val1340=
XM_011516309.3:c.3999G>C	XP_011514611.3:p.Val1333=
XM_011516310.3:c.3915G>C	XP_011514612.3:p.Val1305=
XM_011516311.3:c.3891G>C	XP_011514613.3:p.Val1297=
XM_011516312.3:c.3879G>C	XP_011514614.3:p.Val1293=
XM_011516313.3:c.3858G>C	XP_011514615.2:p.Val1286=
XM_011516315.3:c.3090G>C	XP_011514617.2:p.Val1030=
XM_017012323.2:c.3750G>C	XP_016867812.1:p.Val1250=
XR_001744809.2:n.4258G>C
NM_000443.4:c.3729G>C MANE Select	NP_000434.1:p.Val1243=
NM_018849.3:c.3750G>C	NP_061337.1:p.Val1250=
NM_018850.3:c.3588G>C	NP_061338.1:p.Val1196=