Canonical Allele Identifier: CA368056898

Gene: ABCB4

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3700T>G	ENSP00000352135.3:p.Ser1234Ala
ENST00000649586.2:c.3700T>G MANE Select	ENSP00000496956.2:p.Ser1234Ala
ENST00000265723.8:c.3721T>G	ENSP00000265723.4:p.Ser1241Ala
ENST00000358400.7:c.3559T>G	ENSP00000351172.3:p.Ser1187Ala
ENST00000359206.7:c.3700T>G	ENSP00000352135.3:p.Ser1234Ala
ENST00000440025.1:c.134T>G
ENST00000453593.5:c.3559T>G	ENSP00000392983.1:p.Ser1187Ala
ENST00000467983.1:n.312T>G
NM_000443.3:c.3700T>G	NP_000434.1:p.Ser1234Ala
NM_018849.2:c.3721T>G	NP_061337.1:p.Ser1241Ala
NM_018850.2:c.3559T>G	NP_061338.1:p.Ser1187Ala
XM_011516308.1:c.3721T>G	XP_011514610.1:p.Ser1241Ala
XM_011516309.1:c.3700T>G	XP_011514611.1:p.Ser1234Ala
XM_011516310.1:c.3616T>G	XP_011514612.1:p.Ser1206Ala
XM_011516311.1:c.3592T>G	XP_011514613.1:p.Ser1198Ala
XM_011516312.1:c.3580T>G	XP_011514614.1:p.Ser1194Ala
XM_011516313.1:c.3559T>G	XP_011514615.1:p.Ser1187Ala
XM_011516314.1:c.3742T>G	XP_011514616.1:p.Ser1248Ala
XM_011516315.1:c.3061T>G	XP_011514617.1:p.Ser1021Ala
XM_011516308.3:c.3991T>G	XP_011514610.3:p.Ser1331Ala
XM_011516309.3:c.3970T>G	XP_011514611.3:p.Ser1324Ala
XM_011516310.3:c.3886T>G	XP_011514612.3:p.Ser1296Ala
XM_011516311.3:c.3862T>G	XP_011514613.3:p.Ser1288Ala
XM_011516312.3:c.3850T>G	XP_011514614.3:p.Ser1284Ala
XM_011516313.3:c.3829T>G	XP_011514615.2:p.Ser1277Ala
XM_011516315.3:c.3061T>G	XP_011514617.2:p.Ser1021Ala
XM_017012323.2:c.3721T>G	XP_016867812.1:p.Ser1241Ala
XR_001744809.2:n.4229T>G
NM_000443.4:c.3700T>G MANE Select	NP_000434.1:p.Ser1234Ala
NM_018849.3:c.3721T>G	NP_061337.1:p.Ser1241Ala
NM_018850.3:c.3559T>G	NP_061338.1:p.Ser1187Ala