Canonical Allele Identifier: CA1104127783

Gene: ABCB4

Linked Data

• dbSNP Id: rs1808649244
• gnomAD v3: 7-87411884-G-A
• gnomAD v4: 7-87411884-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87411884G>A , CM000669.2:g.87411884G>A	GRCh38
NC_000007.13:g.87041200G>A , CM000669.1:g.87041200G>A	GRCh37
NC_000007.12:g.86879136G>A	NCBI36
NG_007118.1:g.73549C>T
NG_007118.2:g.73549C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000359206.8:c.2924+9C>T	ENSP00000352135.3:n.2924+9C>T
ENST00000649586.2:c.2924+9C>T MANE Select	ENSP00000496956.2:n.2924+9C>T
ENST00000265723.8:c.2924+9C>T	ENSP00000265723.4:n.2924+9C>T
ENST00000358400.7:c.2783+1733C>T	ENSP00000351172.3:n.2783+1733C>T
ENST00000359206.7:c.2924+9C>T	ENSP00000352135.3:n.2924+9C>T
ENST00000453593.5:c.2783+1733C>T	ENSP00000392983.1:n.2783+1733C>T
NM_000443.3:c.2924+9C>T	NP_000434.1:n.2924+9C>T
NM_018849.2:c.2924+9C>T	NP_061337.1:n.2924+9C>T
NM_018850.2:c.2783+1733C>T	NP_061338.1:n.2783+1733C>T
XM_011516308.1:c.2924+9C>T	XP_011514610.1:n.2924+9C>T
XM_011516309.1:c.2924+9C>T	XP_011514611.1:n.2924+9C>T
XM_011516310.1:c.2819+9C>T	XP_011514612.1:n.2819+9C>T
XM_011516311.1:c.2795+9C>T	XP_011514613.1:n.2795+9C>T
XM_011516312.1:c.2783+1733C>T	XP_011514614.1:n.2783+1733C>T
XM_011516313.1:c.2783+1733C>T	XP_011514615.1:n.2783+1733C>T
XM_011516314.1:c.2945+9C>T	XP_011514616.1:n.2945+9C>T
XM_011516315.1:c.2264+9C>T	XP_011514617.1:n.2264+9C>T
XR_927478.1:n.2779-2492C>T
XM_011516308.3:c.3194+9C>T	XP_011514610.3:n.3194+9C>T
XM_011516309.3:c.3194+9C>T	XP_011514611.3:n.3194+9C>T
XM_011516310.3:c.3089+9C>T	XP_011514612.3:n.3089+9C>T
XM_011516311.3:c.3065+9C>T	XP_011514613.3:n.3065+9C>T
XM_011516312.3:c.3053+1733C>T	XP_011514614.3:n.3053+1733C>T
XM_011516313.3:c.3053+1733C>T	XP_011514615.2:n.3053+1733C>T
XM_011516315.3:c.2264+9C>T	XP_011514617.2:n.2264+9C>T
XM_017012323.2:c.2924+9C>T	XP_016867812.1:n.2924+9C>T
XR_001744809.2:n.3454-2492C>T
NM_000443.4:c.2924+9C>T MANE Select	NP_000434.1:n.2924+9C>T
NM_018849.3:c.2924+9C>T	NP_061337.1:n.2924+9C>T
NM_018850.3:c.2783+1733C>T	NP_061338.1:n.2783+1733C>T