Canonical Allele Identifier: CA1637469

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43874471T>A , CM000664.2:g.43874471T>A	GRCh38
NC_000002.11:g.44101610T>A , CM000664.1:g.44101610T>A	GRCh37
NC_000002.10:g.43955114T>A	NCBI36
NG_008884.1:g.40508T>A
NG_008884.2:g.47530T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.1476T>A MANE Select	NP_071882.1:p.Tyr492Ter
ENST00000272286.4:c.1476T>A MANE Select	ENSP00000272286.2:p.Tyr492Ter
NM_001357321.1:c.1473T>A	NP_001344250.1:p.Tyr491Ter
NM_001357321.2:c.1473T>A	NP_001344250.1:p.Tyr491Ter
NM_022437.2:c.1476T>A	NP_071882.1:p.Tyr492Ter
ENST00000272286.2:c.1476T>A	ENSP00000272286.2:p.Tyr492Ter
XM_005264483.2:c.1473T>A	XP_005264540.1:p.Tyr491Ter
XM_011533029.1:c.1488T>A	XP_011531331.1:p.Tyr496Ter
XM_011533029.2:c.1488T>A	XP_011531331.1:p.Tyr496Ter
XM_011533030.1:c.1485T>A	XP_011531332.1:p.Tyr495Ter
XM_011533030.2:c.1485T>A	XP_011531332.1:p.Tyr495Ter
XM_011533031.1:c.1260T>A	XP_011531333.1:p.Tyr420Ter
XR_001738891.1:n.1992T>A
XR_939707.1:n.1978T>A
XR_939707.2:n.1992T>A