Canonical Allele Identifier: CA4326702

Gene: ABCB4

Linked Data

• dbSNP Id: rs756291116
• ExAC: 7:87031517 A / G
• gnomAD v2: 7-87031517-A-G
• MyVariant Identifiers: chr7:g.87031517A>G (hg19) ; chr7:g.87402201A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402201A>G , CM000669.2:g.87402201A>G	GRCh38
NC_000007.13:g.87031517A>G , CM000669.1:g.87031517A>G	GRCh37
NC_000007.12:g.86869453A>G	NCBI36
NG_007118.1:g.83232T>C
NG_007118.2:g.83232T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3735T>C	ENSP00000352135.3:p.Phe1245=
ENST00000649586.2:c.3735T>C MANE Select	ENSP00000496956.2:p.Phe1245=
ENST00000265723.8:c.3756T>C	ENSP00000265723.4:p.Phe1252=
ENST00000358400.7:c.3594T>C	ENSP00000351172.3:p.Phe1198=
ENST00000359206.7:c.3735T>C	ENSP00000352135.3:p.Phe1245=
ENST00000440025.1:c.169T>C
ENST00000453593.5:c.3594T>C	ENSP00000392983.1:p.Phe1198=
ENST00000467983.1:n.347T>C
NM_000443.3:c.3735T>C	NP_000434.1:p.Phe1245=
NM_018849.2:c.3756T>C	NP_061337.1:p.Phe1252=
NM_018850.2:c.3594T>C	NP_061338.1:p.Phe1198=
XM_011516308.1:c.3756T>C	XP_011514610.1:p.Phe1252=
XM_011516309.1:c.3735T>C	XP_011514611.1:p.Phe1245=
XM_011516310.1:c.3651T>C	XP_011514612.1:p.Phe1217=
XM_011516311.1:c.3627T>C	XP_011514613.1:p.Phe1209=
XM_011516312.1:c.3615T>C	XP_011514614.1:p.Phe1205=
XM_011516313.1:c.3594T>C	XP_011514615.1:p.Phe1198=
XM_011516314.1:c.3777T>C	XP_011514616.1:p.Phe1259=
XM_011516315.1:c.3096T>C	XP_011514617.1:p.Phe1032=
XM_011516308.3:c.4026T>C	XP_011514610.3:p.Phe1342=
XM_011516309.3:c.4005T>C	XP_011514611.3:p.Phe1335=
XM_011516310.3:c.3921T>C	XP_011514612.3:p.Phe1307=
XM_011516311.3:c.3897T>C	XP_011514613.3:p.Phe1299=
XM_011516312.3:c.3885T>C	XP_011514614.3:p.Phe1295=
XM_011516313.3:c.3864T>C	XP_011514615.2:p.Phe1288=
XM_011516315.3:c.3096T>C	XP_011514617.2:p.Phe1032=
XM_017012323.2:c.3756T>C	XP_016867812.1:p.Phe1252=
XR_001744809.2:n.4264T>C
NM_000443.4:c.3735T>C MANE Select	NP_000434.1:p.Phe1245=
NM_018849.3:c.3756T>C	NP_061337.1:p.Phe1252=
NM_018850.3:c.3594T>C	NP_061338.1:p.Phe1198=