Canonical Allele Identifier: CA346668706

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 517640
• ClinVar RCV Id: RCV000602419
• dbSNP Id: rs957176669
• MyVariant Identifiers: chr2:g.44099114G>A (hg19) ; chr2:g.43871975G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43871975G>A , CM000664.2:g.43871975G>A	GRCh38
NC_000002.11:g.44099114G>A , CM000664.1:g.44099114G>A	GRCh37
NC_000002.10:g.43952618G>A	NCBI36
NG_008884.1:g.38012G>A
NG_008884.2:g.45034G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.965-1G>A MANE Select	ENSP00000272286.2:n.965-1G>A
ENST00000644611.1:c.977-1G>A	ENSP00000495423.1:n.977-1G>A
ENST00000272286.2:c.965-1G>A	ENSP00000272286.2:n.965-1G>A
NM_022437.2:c.965-1G>A	NP_071882.1:n.965-1G>A
XM_005264483.2:c.965-1G>A	XP_005264540.1:n.965-1G>A
XM_011533029.1:c.977-1G>A	XP_011531331.1:n.977-1G>A
XM_011533030.1:c.977-1G>A	XP_011531332.1:n.977-1G>A
XM_011533031.1:c.749-1G>A	XP_011531333.1:n.749-1G>A
XR_939707.1:n.1467-1G>A
NM_001357321.1:c.965-1G>A	NP_001344250.1:n.965-1G>A
XM_011533029.2:c.977-1G>A	XP_011531331.1:n.977-1G>A
XM_011533030.2:c.977-1G>A	XP_011531332.1:n.977-1G>A
XR_001738891.1:n.1481-1G>A
XR_939707.2:n.1481-1G>A
NM_022437.3:c.965-1G>A MANE Select	NP_071882.1:n.965-1G>A
NM_001357321.2:c.965-1G>A	NP_001344250.1:n.965-1G>A