Canonical Allele Identifier: CA456356367

Gene: ABCB4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87403147A>G , CM000669.2:g.87403147A>G	GRCh38
NC_000007.13:g.87032463A>G , CM000669.1:g.87032463A>G	GRCh37
NC_000007.12:g.86870399A>G	NCBI36
NG_007118.1:g.82286T>C
NG_007118.2:g.82286T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000443.4:c.3621T>C MANE Select	NP_000434.1:p.Thr1207=
ENST00000649586.2:c.3621T>C MANE Select	ENSP00000496956.2:p.Thr1207=
NM_000443.3:c.3621T>C	NP_000434.1:p.Thr1207=
NM_018849.2:c.3642T>C	NP_061337.1:p.Thr1214=
NM_018849.3:c.3642T>C	NP_061337.1:p.Thr1214=
NM_018850.2:c.3480T>C	NP_061338.1:p.Thr1160=
NM_018850.3:c.3480T>C	NP_061338.1:p.Thr1160=
ENST00000265723.8:c.3642T>C	ENSP00000265723.4:p.Thr1214=
ENST00000358400.7:c.3480T>C	ENSP00000351172.3:p.Thr1160=
ENST00000359206.7:c.3621T>C	ENSP00000352135.3:p.Thr1207=
ENST00000359206.8:c.3621T>C	ENSP00000352135.3:p.Thr1207=
ENST00000440025.1:c.55T>C
ENST00000453593.5:c.3480T>C	ENSP00000392983.1:p.Thr1160=
ENST00000467983.1:n.233T>C
XM_011516308.1:c.3642T>C	XP_011514610.1:p.Thr1214=
XM_011516308.3:c.3912T>C	XP_011514610.3:p.Thr1304=
XM_011516309.1:c.3621T>C	XP_011514611.1:p.Thr1207=
XM_011516309.3:c.3891T>C	XP_011514611.3:p.Thr1297=
XM_011516310.1:c.3537T>C	XP_011514612.1:p.Thr1179=
XM_011516310.3:c.3807T>C	XP_011514612.3:p.Thr1269=
XM_011516311.1:c.3513T>C	XP_011514613.1:p.Thr1171=
XM_011516311.3:c.3783T>C	XP_011514613.3:p.Thr1261=
XM_011516312.1:c.3501T>C	XP_011514614.1:p.Thr1167=
XM_011516312.3:c.3771T>C	XP_011514614.3:p.Thr1257=
XM_011516313.1:c.3480T>C	XP_011514615.1:p.Thr1160=
XM_011516313.3:c.3750T>C	XP_011514615.2:p.Thr1250=
XM_011516314.1:c.3663T>C	XP_011514616.1:p.Thr1221=
XM_011516315.1:c.2982T>C	XP_011514617.1:p.Thr994=
XM_011516315.3:c.2982T>C	XP_011514617.2:p.Thr994=
XM_017012323.2:c.3642T>C	XP_016867812.1:p.Thr1214=
XR_001744809.2:n.4150T>C