Canonical Allele Identifier: CA368056767

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031513T>C (hg19) ; chr7:g.87402197T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402197T>C , CM000669.2:g.87402197T>C	GRCh38
NC_000007.13:g.87031513T>C , CM000669.1:g.87031513T>C	GRCh37
NC_000007.12:g.86869449T>C	NCBI36
NG_007118.1:g.83236A>G
NG_007118.2:g.83236A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3739A>G	ENSP00000352135.3:p.Asn1247Asp
ENST00000649586.2:c.3739A>G MANE Select	ENSP00000496956.2:p.Asn1247Asp
ENST00000265723.8:c.3760A>G	ENSP00000265723.4:p.Asn1254Asp
ENST00000358400.7:c.3598A>G	ENSP00000351172.3:p.Asn1200Asp
ENST00000359206.7:c.3739A>G	ENSP00000352135.3:p.Asn1247Asp
ENST00000440025.1:c.173A>G
ENST00000453593.5:c.3598A>G	ENSP00000392983.1:p.Asn1200Asp
ENST00000467983.1:n.351A>G
NM_000443.3:c.3739A>G	NP_000434.1:p.Asn1247Asp
NM_018849.2:c.3760A>G	NP_061337.1:p.Asn1254Asp
NM_018850.2:c.3598A>G	NP_061338.1:p.Asn1200Asp
XM_011516308.1:c.3760A>G	XP_011514610.1:p.Asn1254Asp
XM_011516309.1:c.3739A>G	XP_011514611.1:p.Asn1247Asp
XM_011516310.1:c.3655A>G	XP_011514612.1:p.Asn1219Asp
XM_011516311.1:c.3631A>G	XP_011514613.1:p.Asn1211Asp
XM_011516312.1:c.3619A>G	XP_011514614.1:p.Asn1207Asp
XM_011516313.1:c.3598A>G	XP_011514615.1:p.Asn1200Asp
XM_011516314.1:c.3781A>G	XP_011514616.1:p.Asn1261Asp
XM_011516315.1:c.3100A>G	XP_011514617.1:p.Asn1034Asp
XM_011516308.3:c.4030A>G	XP_011514610.3:p.Asn1344Asp
XM_011516309.3:c.4009A>G	XP_011514611.3:p.Asn1337Asp
XM_011516310.3:c.3925A>G	XP_011514612.3:p.Asn1309Asp
XM_011516311.3:c.3901A>G	XP_011514613.3:p.Asn1301Asp
XM_011516312.3:c.3889A>G	XP_011514614.3:p.Asn1297Asp
XM_011516313.3:c.3868A>G	XP_011514615.2:p.Asn1290Asp
XM_011516315.3:c.3100A>G	XP_011514617.2:p.Asn1034Asp
XM_017012323.2:c.3760A>G	XP_016867812.1:p.Asn1254Asp
XR_001744809.2:n.4268A>G
NM_000443.4:c.3739A>G MANE Select	NP_000434.1:p.Asn1247Asp
NM_018849.3:c.3760A>G	NP_061337.1:p.Asn1254Asp
NM_018850.3:c.3598A>G	NP_061338.1:p.Asn1200Asp