Canonical Allele Identifier: CA368056890

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031549T>G (hg19) ; chr7:g.87402233T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402233T>G , CM000669.2:g.87402233T>G	GRCh38
NC_000007.13:g.87031549T>G , CM000669.1:g.87031549T>G	GRCh37
NC_000007.12:g.86869485T>G	NCBI36
NG_007118.1:g.83200A>C
NG_007118.2:g.83200A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3703A>C	ENSP00000352135.3:p.Thr1235Pro
ENST00000649586.2:c.3703A>C MANE Select	ENSP00000496956.2:p.Thr1235Pro
ENST00000265723.8:c.3724A>C	ENSP00000265723.4:p.Thr1242Pro
ENST00000358400.7:c.3562A>C	ENSP00000351172.3:p.Thr1188Pro
ENST00000359206.7:c.3703A>C	ENSP00000352135.3:p.Thr1235Pro
ENST00000440025.1:c.137A>C
ENST00000453593.5:c.3562A>C	ENSP00000392983.1:p.Thr1188Pro
ENST00000467983.1:n.315A>C
NM_000443.3:c.3703A>C	NP_000434.1:p.Thr1235Pro
NM_018849.2:c.3724A>C	NP_061337.1:p.Thr1242Pro
NM_018850.2:c.3562A>C	NP_061338.1:p.Thr1188Pro
XM_011516308.1:c.3724A>C	XP_011514610.1:p.Thr1242Pro
XM_011516309.1:c.3703A>C	XP_011514611.1:p.Thr1235Pro
XM_011516310.1:c.3619A>C	XP_011514612.1:p.Thr1207Pro
XM_011516311.1:c.3595A>C	XP_011514613.1:p.Thr1199Pro
XM_011516312.1:c.3583A>C	XP_011514614.1:p.Thr1195Pro
XM_011516313.1:c.3562A>C	XP_011514615.1:p.Thr1188Pro
XM_011516314.1:c.3745A>C	XP_011514616.1:p.Thr1249Pro
XM_011516315.1:c.3064A>C	XP_011514617.1:p.Thr1022Pro
XM_011516308.3:c.3994A>C	XP_011514610.3:p.Thr1332Pro
XM_011516309.3:c.3973A>C	XP_011514611.3:p.Thr1325Pro
XM_011516310.3:c.3889A>C	XP_011514612.3:p.Thr1297Pro
XM_011516311.3:c.3865A>C	XP_011514613.3:p.Thr1289Pro
XM_011516312.3:c.3853A>C	XP_011514614.3:p.Thr1285Pro
XM_011516313.3:c.3832A>C	XP_011514615.2:p.Thr1278Pro
XM_011516315.3:c.3064A>C	XP_011514617.2:p.Thr1022Pro
XM_017012323.2:c.3724A>C	XP_016867812.1:p.Thr1242Pro
XR_001744809.2:n.4232A>C
NM_000443.4:c.3703A>C MANE Select	NP_000434.1:p.Thr1235Pro
NM_018849.3:c.3724A>C	NP_061337.1:p.Thr1242Pro
NM_018850.3:c.3562A>C	NP_061338.1:p.Thr1188Pro