Canonical Allele Identifier: CA4326713

Gene: ABCB4

Linked Data

• ClinVar Variation Id: 1392644
• ClinVar RCV Id: RCV001896330 ; RCV002553631
• dbSNP Id: rs144790968
• ExAC: 7:87031581 C / T
• gnomAD v2: 7-87031581-C-T
• gnomAD v3: 7-87402265-C-T
• gnomAD v4: 7-87402265-C-T
• MyVariant Identifiers: chr7:g.87031581C>T (hg19) ; chr7:g.87402265C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402265C>T , CM000669.2:g.87402265C>T	GRCh38
NC_000007.13:g.87031581C>T , CM000669.1:g.87031581C>T	GRCh37
NC_000007.12:g.86869517C>T	NCBI36
NG_007118.1:g.83168G>A
NG_007118.2:g.83168G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3671G>A	ENSP00000352135.3:p.Arg1224His
ENST00000649586.2:c.3671G>A MANE Select	ENSP00000496956.2:p.Arg1224His
ENST00000265723.8:c.3692G>A	ENSP00000265723.4:p.Arg1231His
ENST00000358400.7:c.3530G>A	ENSP00000351172.3:p.Arg1177His
ENST00000359206.7:c.3671G>A	ENSP00000352135.3:p.Arg1224His
ENST00000440025.1:c.105G>A
ENST00000453593.5:c.3530G>A	ENSP00000392983.1:p.Arg1177His
ENST00000467983.1:n.283G>A
NM_000443.3:c.3671G>A	NP_000434.1:p.Arg1224His
NM_018849.2:c.3692G>A	NP_061337.1:p.Arg1231His
NM_018850.2:c.3530G>A	NP_061338.1:p.Arg1177His
XM_011516308.1:c.3692G>A	XP_011514610.1:p.Arg1231His
XM_011516309.1:c.3671G>A	XP_011514611.1:p.Arg1224His
XM_011516310.1:c.3587G>A	XP_011514612.1:p.Arg1196His
XM_011516311.1:c.3563G>A	XP_011514613.1:p.Arg1188His
XM_011516312.1:c.3551G>A	XP_011514614.1:p.Arg1184His
XM_011516313.1:c.3530G>A	XP_011514615.1:p.Arg1177His
XM_011516314.1:c.3713G>A	XP_011514616.1:p.Arg1238His
XM_011516315.1:c.3032G>A	XP_011514617.1:p.Arg1011His
XM_011516308.3:c.3962G>A	XP_011514610.3:p.Arg1321His
XM_011516309.3:c.3941G>A	XP_011514611.3:p.Arg1314His
XM_011516310.3:c.3857G>A	XP_011514612.3:p.Arg1286His
XM_011516311.3:c.3833G>A	XP_011514613.3:p.Arg1278His
XM_011516312.3:c.3821G>A	XP_011514614.3:p.Arg1274His
XM_011516313.3:c.3800G>A	XP_011514615.2:p.Arg1267His
XM_011516315.3:c.3032G>A	XP_011514617.2:p.Arg1011His
XM_017012323.2:c.3692G>A	XP_016867812.1:p.Arg1231His
XR_001744809.2:n.4200G>A
NM_000443.4:c.3671G>A MANE Select	NP_000434.1:p.Arg1224His
NM_018849.3:c.3692G>A	NP_061337.1:p.Arg1231His
NM_018850.3:c.3530G>A	NP_061338.1:p.Arg1177His