Canonical Allele Identifier: CA368056741

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031501T>C (hg19) ; chr7:g.87402185T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402185T>C , CM000669.2:g.87402185T>C	GRCh38
NC_000007.13:g.87031501T>C , CM000669.1:g.87031501T>C	GRCh37
NC_000007.12:g.86869437T>C	NCBI36
NG_007118.1:g.83248A>G
NG_007118.2:g.83248A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3751A>G	ENSP00000352135.3:p.Lys1251Glu
ENST00000649586.2:c.3751A>G MANE Select	ENSP00000496956.2:p.Lys1251Glu
ENST00000265723.8:c.3772A>G	ENSP00000265723.4:p.Lys1258Glu
ENST00000358400.7:c.3610A>G	ENSP00000351172.3:p.Lys1204Glu
ENST00000359206.7:c.3751A>G	ENSP00000352135.3:p.Lys1251Glu
ENST00000440025.1:c.185A>G
ENST00000453593.5:c.3610A>G	ENSP00000392983.1:p.Lys1204Glu
ENST00000467983.1:n.363A>G
NM_000443.3:c.3751A>G	NP_000434.1:p.Lys1251Glu
NM_018849.2:c.3772A>G	NP_061337.1:p.Lys1258Glu
NM_018850.2:c.3610A>G	NP_061338.1:p.Lys1204Glu
XM_011516308.1:c.3772A>G	XP_011514610.1:p.Lys1258Glu
XM_011516309.1:c.3751A>G	XP_011514611.1:p.Lys1251Glu
XM_011516310.1:c.3667A>G	XP_011514612.1:p.Lys1223Glu
XM_011516311.1:c.3643A>G	XP_011514613.1:p.Lys1215Glu
XM_011516312.1:c.3631A>G	XP_011514614.1:p.Lys1211Glu
XM_011516313.1:c.3610A>G	XP_011514615.1:p.Lys1204Glu
XM_011516314.1:c.3793A>G	XP_011514616.1:p.Lys1265Glu
XM_011516315.1:c.3112A>G	XP_011514617.1:p.Lys1038Glu
XM_011516308.3:c.4042A>G	XP_011514610.3:p.Lys1348Glu
XM_011516309.3:c.4021A>G	XP_011514611.3:p.Lys1341Glu
XM_011516310.3:c.3937A>G	XP_011514612.3:p.Lys1313Glu
XM_011516311.3:c.3913A>G	XP_011514613.3:p.Lys1305Glu
XM_011516312.3:c.3901A>G	XP_011514614.3:p.Lys1301Glu
XM_011516313.3:c.3880A>G	XP_011514615.2:p.Lys1294Glu
XM_011516315.3:c.3112A>G	XP_011514617.2:p.Lys1038Glu
XM_017012323.2:c.3772A>G	XP_016867812.1:p.Lys1258Glu
XR_001744809.2:n.4280A>G
NM_000443.4:c.3751A>G MANE Select	NP_000434.1:p.Lys1251Glu
NM_018849.3:c.3772A>G	NP_061337.1:p.Lys1258Glu
NM_018850.3:c.3610A>G	NP_061338.1:p.Lys1204Glu