Canonical Allele Identifier: CA368056902

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031552A>T (hg19) ; chr7:g.87402236A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402236A>T , CM000669.2:g.87402236A>T	GRCh38
NC_000007.13:g.87031552A>T , CM000669.1:g.87031552A>T	GRCh37
NC_000007.12:g.86869488A>T	NCBI36
NG_007118.1:g.83197T>A
NG_007118.2:g.83197T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3700T>A	ENSP00000352135.3:p.Ser1234Thr
ENST00000649586.2:c.3700T>A MANE Select	ENSP00000496956.2:p.Ser1234Thr
ENST00000265723.8:c.3721T>A	ENSP00000265723.4:p.Ser1241Thr
ENST00000358400.7:c.3559T>A	ENSP00000351172.3:p.Ser1187Thr
ENST00000359206.7:c.3700T>A	ENSP00000352135.3:p.Ser1234Thr
ENST00000440025.1:c.134T>A
ENST00000453593.5:c.3559T>A	ENSP00000392983.1:p.Ser1187Thr
ENST00000467983.1:n.312T>A
NM_000443.3:c.3700T>A	NP_000434.1:p.Ser1234Thr
NM_018849.2:c.3721T>A	NP_061337.1:p.Ser1241Thr
NM_018850.2:c.3559T>A	NP_061338.1:p.Ser1187Thr
XM_011516308.1:c.3721T>A	XP_011514610.1:p.Ser1241Thr
XM_011516309.1:c.3700T>A	XP_011514611.1:p.Ser1234Thr
XM_011516310.1:c.3616T>A	XP_011514612.1:p.Ser1206Thr
XM_011516311.1:c.3592T>A	XP_011514613.1:p.Ser1198Thr
XM_011516312.1:c.3580T>A	XP_011514614.1:p.Ser1194Thr
XM_011516313.1:c.3559T>A	XP_011514615.1:p.Ser1187Thr
XM_011516314.1:c.3742T>A	XP_011514616.1:p.Ser1248Thr
XM_011516315.1:c.3061T>A	XP_011514617.1:p.Ser1021Thr
XM_011516308.3:c.3991T>A	XP_011514610.3:p.Ser1331Thr
XM_011516309.3:c.3970T>A	XP_011514611.3:p.Ser1324Thr
XM_011516310.3:c.3886T>A	XP_011514612.3:p.Ser1296Thr
XM_011516311.3:c.3862T>A	XP_011514613.3:p.Ser1288Thr
XM_011516312.3:c.3850T>A	XP_011514614.3:p.Ser1284Thr
XM_011516313.3:c.3829T>A	XP_011514615.2:p.Ser1277Thr
XM_011516315.3:c.3061T>A	XP_011514617.2:p.Ser1021Thr
XM_017012323.2:c.3721T>A	XP_016867812.1:p.Ser1241Thr
XR_001744809.2:n.4229T>A
NM_000443.4:c.3700T>A MANE Select	NP_000434.1:p.Ser1234Thr
NM_018849.3:c.3721T>A	NP_061337.1:p.Ser1241Thr
NM_018850.3:c.3559T>A	NP_061338.1:p.Ser1187Thr