Canonical Allele Identifier: CA368056792

Gene: ABCB4

Linked Data

• COSMIC: COSM278528
• MyVariant Identifiers: chr7:g.87031524A>G (hg19) ; chr7:g.87402208A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402208A>G , CM000669.2:g.87402208A>G	GRCh38
NC_000007.13:g.87031524A>G , CM000669.1:g.87031524A>G	GRCh37
NC_000007.12:g.86869460A>G	NCBI36
NG_007118.1:g.83225T>C
NG_007118.2:g.83225T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3728T>C	ENSP00000352135.3:p.Val1243Ala
ENST00000649586.2:c.3728T>C MANE Select	ENSP00000496956.2:p.Val1243Ala
ENST00000265723.8:c.3749T>C	ENSP00000265723.4:p.Val1250Ala
ENST00000358400.7:c.3587T>C	ENSP00000351172.3:p.Val1196Ala
ENST00000359206.7:c.3728T>C	ENSP00000352135.3:p.Val1243Ala
ENST00000440025.1:c.162T>C
ENST00000453593.5:c.3587T>C	ENSP00000392983.1:p.Val1196Ala
ENST00000467983.1:n.340T>C
NM_000443.3:c.3728T>C	NP_000434.1:p.Val1243Ala
NM_018849.2:c.3749T>C	NP_061337.1:p.Val1250Ala
NM_018850.2:c.3587T>C	NP_061338.1:p.Val1196Ala
XM_011516308.1:c.3749T>C	XP_011514610.1:p.Val1250Ala
XM_011516309.1:c.3728T>C	XP_011514611.1:p.Val1243Ala
XM_011516310.1:c.3644T>C	XP_011514612.1:p.Val1215Ala
XM_011516311.1:c.3620T>C	XP_011514613.1:p.Val1207Ala
XM_011516312.1:c.3608T>C	XP_011514614.1:p.Val1203Ala
XM_011516313.1:c.3587T>C	XP_011514615.1:p.Val1196Ala
XM_011516314.1:c.3770T>C	XP_011514616.1:p.Val1257Ala
XM_011516315.1:c.3089T>C	XP_011514617.1:p.Val1030Ala
XM_011516308.3:c.4019T>C	XP_011514610.3:p.Val1340Ala
XM_011516309.3:c.3998T>C	XP_011514611.3:p.Val1333Ala
XM_011516310.3:c.3914T>C	XP_011514612.3:p.Val1305Ala
XM_011516311.3:c.3890T>C	XP_011514613.3:p.Val1297Ala
XM_011516312.3:c.3878T>C	XP_011514614.3:p.Val1293Ala
XM_011516313.3:c.3857T>C	XP_011514615.2:p.Val1286Ala
XM_011516315.3:c.3089T>C	XP_011514617.2:p.Val1030Ala
XM_017012323.2:c.3749T>C	XP_016867812.1:p.Val1250Ala
XR_001744809.2:n.4257T>C
NM_000443.4:c.3728T>C MANE Select	NP_000434.1:p.Val1243Ala
NM_018849.3:c.3749T>C	NP_061337.1:p.Val1250Ala
NM_018850.3:c.3587T>C	NP_061338.1:p.Val1196Ala