Canonical Allele Identifier: CA368057006

Gene: ABCB4

Linked Data

• gnomAD v4: 7-87402263-T-A
• MyVariant Identifiers: chr7:g.87031579T>A (hg19) ; chr7:g.87402263T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402263T>A , CM000669.2:g.87402263T>A	GRCh38
NC_000007.13:g.87031579T>A , CM000669.1:g.87031579T>A	GRCh37
NC_000007.12:g.86869515T>A	NCBI36
NG_007118.1:g.83170A>T
NG_007118.2:g.83170A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3673A>T	ENSP00000352135.3:p.Thr1225Ser
ENST00000649586.2:c.3673A>T MANE Select	ENSP00000496956.2:p.Thr1225Ser
ENST00000265723.8:c.3694A>T	ENSP00000265723.4:p.Thr1232Ser
ENST00000358400.7:c.3532A>T	ENSP00000351172.3:p.Thr1178Ser
ENST00000359206.7:c.3673A>T	ENSP00000352135.3:p.Thr1225Ser
ENST00000440025.1:c.107A>T
ENST00000453593.5:c.3532A>T	ENSP00000392983.1:p.Thr1178Ser
ENST00000467983.1:n.285A>T
NM_000443.3:c.3673A>T	NP_000434.1:p.Thr1225Ser
NM_018849.2:c.3694A>T	NP_061337.1:p.Thr1232Ser
NM_018850.2:c.3532A>T	NP_061338.1:p.Thr1178Ser
XM_011516308.1:c.3694A>T	XP_011514610.1:p.Thr1232Ser
XM_011516309.1:c.3673A>T	XP_011514611.1:p.Thr1225Ser
XM_011516310.1:c.3589A>T	XP_011514612.1:p.Thr1197Ser
XM_011516311.1:c.3565A>T	XP_011514613.1:p.Thr1189Ser
XM_011516312.1:c.3553A>T	XP_011514614.1:p.Thr1185Ser
XM_011516313.1:c.3532A>T	XP_011514615.1:p.Thr1178Ser
XM_011516314.1:c.3715A>T	XP_011514616.1:p.Thr1239Ser
XM_011516315.1:c.3034A>T	XP_011514617.1:p.Thr1012Ser
XM_011516308.3:c.3964A>T	XP_011514610.3:p.Thr1322Ser
XM_011516309.3:c.3943A>T	XP_011514611.3:p.Thr1315Ser
XM_011516310.3:c.3859A>T	XP_011514612.3:p.Thr1287Ser
XM_011516311.3:c.3835A>T	XP_011514613.3:p.Thr1279Ser
XM_011516312.3:c.3823A>T	XP_011514614.3:p.Thr1275Ser
XM_011516313.3:c.3802A>T	XP_011514615.2:p.Thr1268Ser
XM_011516315.3:c.3034A>T	XP_011514617.2:p.Thr1012Ser
XM_017012323.2:c.3694A>T	XP_016867812.1:p.Thr1232Ser
XR_001744809.2:n.4202A>T
NM_000443.4:c.3673A>T MANE Select	NP_000434.1:p.Thr1225Ser
NM_018849.3:c.3694A>T	NP_061337.1:p.Thr1232Ser
NM_018850.3:c.3532A>T	NP_061338.1:p.Thr1178Ser