Canonical Allele Identifier: CA085480

Gene: ABCB4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.[87443683G>C;87453049C>T] , CM000669.2:g.[87443683G>C;87453049C>T]	GRCh38
NC_000007.13:g.[87072999G>C;87082365C>T] , CM000669.1:g.[87072999G>C;87082365C>T]	GRCh37
NC_000007.12:g.[86910935G>C;86920301C>T]	NCBI36
NG_007118.1:g.[32384G>A;41750C>G]
NG_007118.2:g.[32384G>A;41750C>G]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.[431G>A;1210C>G]	ENSP00000352135.3:p.[Arg144Gln;Pro404Ala]
ENST00000643670.1:c.[374G>A;1226C>G]	ENSP00000496629.1:[p.Arg125Gln;n.1226C>G]
ENST00000644106.1:c.[431G>A;*747C>G]	ENSP00000493477.1:[p.Arg144Gln;n.*747C>G]
ENST00000649586.2:c.[431G>A;1210C>G] MANE Select	ENSP00000496956.2:p.[Arg144Gln;Pro404Ala]
ENST00000265723.8:c.[431G>A;1210C>G]	ENSP00000265723.4:p.[Arg144Gln;Pro404Ala]
ENST00000358400.7:c.[431G>A;1210C>G]	ENSP00000351172.3:p.[Arg144Gln;Pro404Ala]
ENST00000359206.7:c.[431G>A;1210C>G]	ENSP00000352135.3:p.[Arg144Gln;Pro404Ala]
ENST00000453593.5:c.[431G>A;1210C>G]	ENSP00000392983.1:p.[Arg144Gln;Pro404Ala]
NM_000443.3:c.[431G>A;1210C>G]	NP_000434.1:p.[Arg144Gln;Pro404Ala]
NM_018849.2:c.[431G>A;1210C>G]	NP_061337.1:p.[Arg144Gln;Pro404Ala]
NM_018850.2:c.[431G>A;1210C>G]	NP_061338.1:p.[Arg144Gln;Pro404Ala]
XM_011516308.1:c.[431G>A;1210C>G]	XP_011514610.1:p.[Arg144Gln;Pro404Ala]
XM_011516309.1:c.[431G>A;1210C>G]	XP_011514611.1:p.[Arg144Gln;Pro404Ala]
XM_011516310.1:c.[431G>A;1210C>G]	XP_011514612.1:p.[Arg144Gln;Pro404Ala]
XM_011516311.1:c.[431G>A;1210C>G]	XP_011514613.1:p.[Arg144Gln;Pro404Ala]
XM_011516312.1:c.[431G>A;1210C>G]	XP_011514614.1:p.[Arg144Gln;Pro404Ala]
XM_011516313.1:c.[431G>A;1210C>G]	XP_011514615.1:p.[Arg144Gln;Pro404Ala]
XM_011516314.1:c.[452G>A;1231C>G]	XP_011514616.1:p.[Arg151Gln;Pro411Ala]
XR_927478.1:n.[527G>A;1306C>G]
XM_011516308.3:c.[701G>A;1480C>G]	XP_011514610.3:p.[Arg234Gln;Pro494Ala]
XM_011516309.3:c.[701G>A;1480C>G]	XP_011514611.3:p.[Arg234Gln;Pro494Ala]
XM_011516310.3:c.[701G>A;1480C>G]	XP_011514612.3:p.[Arg234Gln;Pro494Ala]
XM_011516311.3:c.[701G>A;1480C>G]	XP_011514613.3:p.[Arg234Gln;Pro494Ala]
XM_011516312.3:c.[701G>A;1480C>G]	XP_011514614.3:p.[Arg234Gln;Pro494Ala]
XM_011516313.3:c.[701G>A;1480C>G]	XP_011514615.2:p.[Arg234Gln;Pro494Ala]
XM_017012323.2:c.[431G>A;1210C>G]	XP_016867812.1:p.[Arg144Gln;Pro404Ala]
XR_001744809.2:n.[1202G>A;1981C>G]
XR_001744810.2:n.[1197G>A;1976C>G]
NM_000443.4:c.[431G>A;1210C>G] MANE Select	NP_000434.1:p.[Arg144Gln;Pro404Ala]
NM_018849.3:c.[431G>A;1210C>G]	NP_061337.1:p.[Arg144Gln;Pro404Ala]
NM_018850.3:c.[431G>A;1210C>G]	NP_061338.1:p.[Arg144Gln;Pro404Ala]