Canonical Allele Identifier: CA368056935

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031561G>A (hg19) ; chr7:g.87402245G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402245G>A , CM000669.2:g.87402245G>A	GRCh38
NC_000007.13:g.87031561G>A , CM000669.1:g.87031561G>A	GRCh37
NC_000007.12:g.86869497G>A	NCBI36
NG_007118.1:g.83188C>T
NG_007118.2:g.83188C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3691C>T	ENSP00000352135.3:p.His1231Tyr
ENST00000649586.2:c.3691C>T MANE Select	ENSP00000496956.2:p.His1231Tyr
ENST00000265723.8:c.3712C>T	ENSP00000265723.4:p.His1238Tyr
ENST00000358400.7:c.3550C>T	ENSP00000351172.3:p.His1184Tyr
ENST00000359206.7:c.3691C>T	ENSP00000352135.3:p.His1231Tyr
ENST00000440025.1:c.125C>T
ENST00000453593.5:c.3550C>T	ENSP00000392983.1:p.His1184Tyr
ENST00000467983.1:n.303C>T
NM_000443.3:c.3691C>T	NP_000434.1:p.His1231Tyr
NM_018849.2:c.3712C>T	NP_061337.1:p.His1238Tyr
NM_018850.2:c.3550C>T	NP_061338.1:p.His1184Tyr
XM_011516308.1:c.3712C>T	XP_011514610.1:p.His1238Tyr
XM_011516309.1:c.3691C>T	XP_011514611.1:p.His1231Tyr
XM_011516310.1:c.3607C>T	XP_011514612.1:p.His1203Tyr
XM_011516311.1:c.3583C>T	XP_011514613.1:p.His1195Tyr
XM_011516312.1:c.3571C>T	XP_011514614.1:p.His1191Tyr
XM_011516313.1:c.3550C>T	XP_011514615.1:p.His1184Tyr
XM_011516314.1:c.3733C>T	XP_011514616.1:p.His1245Tyr
XM_011516315.1:c.3052C>T	XP_011514617.1:p.His1018Tyr
XM_011516308.3:c.3982C>T	XP_011514610.3:p.His1328Tyr
XM_011516309.3:c.3961C>T	XP_011514611.3:p.His1321Tyr
XM_011516310.3:c.3877C>T	XP_011514612.3:p.His1293Tyr
XM_011516311.3:c.3853C>T	XP_011514613.3:p.His1285Tyr
XM_011516312.3:c.3841C>T	XP_011514614.3:p.His1281Tyr
XM_011516313.3:c.3820C>T	XP_011514615.2:p.His1274Tyr
XM_011516315.3:c.3052C>T	XP_011514617.2:p.His1018Tyr
XM_017012323.2:c.3712C>T	XP_016867812.1:p.His1238Tyr
XR_001744809.2:n.4220C>T
NM_000443.4:c.3691C>T MANE Select	NP_000434.1:p.His1231Tyr
NM_018849.3:c.3712C>T	NP_061337.1:p.His1238Tyr
NM_018850.3:c.3550C>T	NP_061338.1:p.His1184Tyr