Canonical Allele Identifier: CA46441674

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43852759G>A , CM000664.2:g.43852759G>A	GRCh38
NC_000002.11:g.44079898G>A , CM000664.1:g.44079898G>A	GRCh37
NC_000002.10:g.43933402G>A	NCBI36
NG_008884.1:g.18796G>A
NG_008884.2:g.25818G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.855G>A MANE Select	NP_071882.1:p.Leu285=
ENST00000272286.4:c.855G>A MANE Select	ENSP00000272286.2:p.Leu285=
NM_001357321.1:c.855G>A	NP_001344250.1:p.Leu285=
NM_001357321.2:c.855G>A	NP_001344250.1:p.Leu285=
NM_022437.2:c.855G>A	NP_071882.1:p.Leu285=
ENST00000272286.2:c.855G>A	ENSP00000272286.2:p.Leu285=
ENST00000644611.1:c.867G>A	ENSP00000495423.1:p.Leu289=
XM_005264483.2:c.855G>A	XP_005264540.1:p.Leu285=
XM_011533029.1:c.867G>A	XP_011531331.1:p.Leu289=
XM_011533029.2:c.867G>A	XP_011531331.1:p.Leu289=
XM_011533030.1:c.867G>A	XP_011531332.1:p.Leu289=
XM_011533030.2:c.867G>A	XP_011531332.1:p.Leu289=
XM_011533031.1:c.639G>A	XP_011531333.1:p.Leu213=
XR_001738891.1:n.1371G>A
XR_939707.1:n.1357G>A
XR_939707.2:n.1371G>A