Canonical Allele Identifier: CA368056785

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031521A>C (hg19) ; chr7:g.87402205A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402205A>C , CM000669.2:g.87402205A>C	GRCh38
NC_000007.13:g.87031521A>C , CM000669.1:g.87031521A>C	GRCh37
NC_000007.12:g.86869457A>C	NCBI36
NG_007118.1:g.83228T>G
NG_007118.2:g.83228T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3731T>G	ENSP00000352135.3:p.Val1244Gly
ENST00000649586.2:c.3731T>G MANE Select	ENSP00000496956.2:p.Val1244Gly
ENST00000265723.8:c.3752T>G	ENSP00000265723.4:p.Val1251Gly
ENST00000358400.7:c.3590T>G	ENSP00000351172.3:p.Val1197Gly
ENST00000359206.7:c.3731T>G	ENSP00000352135.3:p.Val1244Gly
ENST00000440025.1:c.165T>G
ENST00000453593.5:c.3590T>G	ENSP00000392983.1:p.Val1197Gly
ENST00000467983.1:n.343T>G
NM_000443.3:c.3731T>G	NP_000434.1:p.Val1244Gly
NM_018849.2:c.3752T>G	NP_061337.1:p.Val1251Gly
NM_018850.2:c.3590T>G	NP_061338.1:p.Val1197Gly
XM_011516308.1:c.3752T>G	XP_011514610.1:p.Val1251Gly
XM_011516309.1:c.3731T>G	XP_011514611.1:p.Val1244Gly
XM_011516310.1:c.3647T>G	XP_011514612.1:p.Val1216Gly
XM_011516311.1:c.3623T>G	XP_011514613.1:p.Val1208Gly
XM_011516312.1:c.3611T>G	XP_011514614.1:p.Val1204Gly
XM_011516313.1:c.3590T>G	XP_011514615.1:p.Val1197Gly
XM_011516314.1:c.3773T>G	XP_011514616.1:p.Val1258Gly
XM_011516315.1:c.3092T>G	XP_011514617.1:p.Val1031Gly
XM_011516308.3:c.4022T>G	XP_011514610.3:p.Val1341Gly
XM_011516309.3:c.4001T>G	XP_011514611.3:p.Val1334Gly
XM_011516310.3:c.3917T>G	XP_011514612.3:p.Val1306Gly
XM_011516311.3:c.3893T>G	XP_011514613.3:p.Val1298Gly
XM_011516312.3:c.3881T>G	XP_011514614.3:p.Val1294Gly
XM_011516313.3:c.3860T>G	XP_011514615.2:p.Val1287Gly
XM_011516315.3:c.3092T>G	XP_011514617.2:p.Val1031Gly
XM_017012323.2:c.3752T>G	XP_016867812.1:p.Val1251Gly
XR_001744809.2:n.4260T>G
NM_000443.4:c.3731T>G MANE Select	NP_000434.1:p.Val1244Gly
NM_018849.3:c.3752T>G	NP_061337.1:p.Val1251Gly
NM_018850.3:c.3590T>G	NP_061338.1:p.Val1197Gly