Canonical Allele Identifier: CA368056766

Gene: ABCB4

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3739A>T	ENSP00000352135.3:p.Asn1247Tyr
ENST00000649586.2:c.3739A>T MANE Select	ENSP00000496956.2:p.Asn1247Tyr
ENST00000265723.8:c.3760A>T	ENSP00000265723.4:p.Asn1254Tyr
ENST00000358400.7:c.3598A>T	ENSP00000351172.3:p.Asn1200Tyr
ENST00000359206.7:c.3739A>T	ENSP00000352135.3:p.Asn1247Tyr
ENST00000440025.1:c.173A>T
ENST00000453593.5:c.3598A>T	ENSP00000392983.1:p.Asn1200Tyr
ENST00000467983.1:n.351A>T
NM_000443.3:c.3739A>T	NP_000434.1:p.Asn1247Tyr
NM_018849.2:c.3760A>T	NP_061337.1:p.Asn1254Tyr
NM_018850.2:c.3598A>T	NP_061338.1:p.Asn1200Tyr
XM_011516308.1:c.3760A>T	XP_011514610.1:p.Asn1254Tyr
XM_011516309.1:c.3739A>T	XP_011514611.1:p.Asn1247Tyr
XM_011516310.1:c.3655A>T	XP_011514612.1:p.Asn1219Tyr
XM_011516311.1:c.3631A>T	XP_011514613.1:p.Asn1211Tyr
XM_011516312.1:c.3619A>T	XP_011514614.1:p.Asn1207Tyr
XM_011516313.1:c.3598A>T	XP_011514615.1:p.Asn1200Tyr
XM_011516314.1:c.3781A>T	XP_011514616.1:p.Asn1261Tyr
XM_011516315.1:c.3100A>T	XP_011514617.1:p.Asn1034Tyr
XM_011516308.3:c.4030A>T	XP_011514610.3:p.Asn1344Tyr
XM_011516309.3:c.4009A>T	XP_011514611.3:p.Asn1337Tyr
XM_011516310.3:c.3925A>T	XP_011514612.3:p.Asn1309Tyr
XM_011516311.3:c.3901A>T	XP_011514613.3:p.Asn1301Tyr
XM_011516312.3:c.3889A>T	XP_011514614.3:p.Asn1297Tyr
XM_011516313.3:c.3868A>T	XP_011514615.2:p.Asn1290Tyr
XM_011516315.3:c.3100A>T	XP_011514617.2:p.Asn1034Tyr
XM_017012323.2:c.3760A>T	XP_016867812.1:p.Asn1254Tyr
XR_001744809.2:n.4268A>T
NM_000443.4:c.3739A>T MANE Select	NP_000434.1:p.Asn1247Tyr
NM_018849.3:c.3760A>T	NP_061337.1:p.Asn1254Tyr
NM_018850.3:c.3598A>T	NP_061338.1:p.Asn1200Tyr