Canonical Allele Identifier: CA4326707

Gene: ABCB4

Linked Data

• ClinVar Variation Id: 2690801
• ClinVar RCV Id: RCV003489507
• dbSNP Id: rs369147999
• ExAC: 7:87031558 G / A
• gnomAD v2: 7-87031558-G-A
• gnomAD v3: 7-87402242-G-A
• gnomAD v4: 7-87402242-G-A
• MyVariant Identifiers: chr7:g.87031558G>A (hg19) ; chr7:g.87402242G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402242G>A , CM000669.2:g.87402242G>A	GRCh38
NC_000007.13:g.87031558G>A , CM000669.1:g.87031558G>A	GRCh37
NC_000007.12:g.86869494G>A	NCBI36
NG_007118.1:g.83191C>T
NG_007118.2:g.83191C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3694C>T	ENSP00000352135.3:p.Arg1232Cys
ENST00000649586.2:c.3694C>T MANE Select	ENSP00000496956.2:p.Arg1232Cys
ENST00000265723.8:c.3715C>T	ENSP00000265723.4:p.Arg1239Cys
ENST00000358400.7:c.3553C>T	ENSP00000351172.3:p.Arg1185Cys
ENST00000359206.7:c.3694C>T	ENSP00000352135.3:p.Arg1232Cys
ENST00000440025.1:c.128C>T
ENST00000453593.5:c.3553C>T	ENSP00000392983.1:p.Arg1185Cys
ENST00000467983.1:n.306C>T
NM_000443.3:c.3694C>T	NP_000434.1:p.Arg1232Cys
NM_018849.2:c.3715C>T	NP_061337.1:p.Arg1239Cys
NM_018850.2:c.3553C>T	NP_061338.1:p.Arg1185Cys
XM_011516308.1:c.3715C>T	XP_011514610.1:p.Arg1239Cys
XM_011516309.1:c.3694C>T	XP_011514611.1:p.Arg1232Cys
XM_011516310.1:c.3610C>T	XP_011514612.1:p.Arg1204Cys
XM_011516311.1:c.3586C>T	XP_011514613.1:p.Arg1196Cys
XM_011516312.1:c.3574C>T	XP_011514614.1:p.Arg1192Cys
XM_011516313.1:c.3553C>T	XP_011514615.1:p.Arg1185Cys
XM_011516314.1:c.3736C>T	XP_011514616.1:p.Arg1246Cys
XM_011516315.1:c.3055C>T	XP_011514617.1:p.Arg1019Cys
XM_011516308.3:c.3985C>T	XP_011514610.3:p.Arg1329Cys
XM_011516309.3:c.3964C>T	XP_011514611.3:p.Arg1322Cys
XM_011516310.3:c.3880C>T	XP_011514612.3:p.Arg1294Cys
XM_011516311.3:c.3856C>T	XP_011514613.3:p.Arg1286Cys
XM_011516312.3:c.3844C>T	XP_011514614.3:p.Arg1282Cys
XM_011516313.3:c.3823C>T	XP_011514615.2:p.Arg1275Cys
XM_011516315.3:c.3055C>T	XP_011514617.2:p.Arg1019Cys
XM_017012323.2:c.3715C>T	XP_016867812.1:p.Arg1239Cys
XR_001744809.2:n.4223C>T
NM_000443.4:c.3694C>T MANE Select	NP_000434.1:p.Arg1232Cys
NM_018849.3:c.3715C>T	NP_061337.1:p.Arg1239Cys
NM_018850.3:c.3553C>T	NP_061338.1:p.Arg1185Cys