Canonical Allele Identifier: CA368056752

Gene: ABCB4

Linked Data

• dbSNP Id: rs2116295192
• gnomAD v4: 7-87402190-C-T
• MyVariant Identifiers: chr7:g.87031506C>T (hg19) ; chr7:g.87402190C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402190C>T , CM000669.2:g.87402190C>T	GRCh38
NC_000007.13:g.87031506C>T , CM000669.1:g.87031506C>T	GRCh37
NC_000007.12:g.86869442C>T	NCBI36
NG_007118.1:g.83243G>A
NG_007118.2:g.83243G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3746G>A	ENSP00000352135.3:p.Arg1249Lys
ENST00000649586.2:c.3746G>A MANE Select	ENSP00000496956.2:p.Arg1249Lys
ENST00000265723.8:c.3767G>A	ENSP00000265723.4:p.Arg1256Lys
ENST00000358400.7:c.3605G>A	ENSP00000351172.3:p.Arg1202Lys
ENST00000359206.7:c.3746G>A	ENSP00000352135.3:p.Arg1249Lys
ENST00000440025.1:c.180G>A
ENST00000453593.5:c.3605G>A	ENSP00000392983.1:p.Arg1202Lys
ENST00000467983.1:n.358G>A
NM_000443.3:c.3746G>A	NP_000434.1:p.Arg1249Lys
NM_018849.2:c.3767G>A	NP_061337.1:p.Arg1256Lys
NM_018850.2:c.3605G>A	NP_061338.1:p.Arg1202Lys
XM_011516308.1:c.3767G>A	XP_011514610.1:p.Arg1256Lys
XM_011516309.1:c.3746G>A	XP_011514611.1:p.Arg1249Lys
XM_011516310.1:c.3662G>A	XP_011514612.1:p.Arg1221Lys
XM_011516311.1:c.3638G>A	XP_011514613.1:p.Arg1213Lys
XM_011516312.1:c.3626G>A	XP_011514614.1:p.Arg1209Lys
XM_011516313.1:c.3605G>A	XP_011514615.1:p.Arg1202Lys
XM_011516314.1:c.3788G>A	XP_011514616.1:p.Arg1263Lys
XM_011516315.1:c.3107G>A	XP_011514617.1:p.Arg1036Lys
XM_011516308.3:c.4037G>A	XP_011514610.3:p.Arg1346Lys
XM_011516309.3:c.4016G>A	XP_011514611.3:p.Arg1339Lys
XM_011516310.3:c.3932G>A	XP_011514612.3:p.Arg1311Lys
XM_011516311.3:c.3908G>A	XP_011514613.3:p.Arg1303Lys
XM_011516312.3:c.3896G>A	XP_011514614.3:p.Arg1299Lys
XM_011516313.3:c.3875G>A	XP_011514615.2:p.Arg1292Lys
XM_011516315.3:c.3107G>A	XP_011514617.2:p.Arg1036Lys
XM_017012323.2:c.3767G>A	XP_016867812.1:p.Arg1256Lys
XR_001744809.2:n.4275G>A
NM_000443.4:c.3746G>A MANE Select	NP_000434.1:p.Arg1249Lys
NM_018849.3:c.3767G>A	NP_061337.1:p.Arg1256Lys
NM_018850.3:c.3605G>A	NP_061338.1:p.Arg1202Lys