Canonical Allele Identifier: CA769056715

Gene: ABCG8

Linked Data

• dbSNP Id: rs1177943748
• MyVariant Identifiers: chr2:g.44066094G>A (hg19) ; chr2:g.43838955G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43838955G>A , CM000664.2:g.43838955G>A	GRCh38
NC_000002.11:g.44066094G>A , CM000664.1:g.44066094G>A	GRCh37
NC_000002.10:g.43919598G>A	NCBI36
NG_008883.1:g.4865C>T
NG_008884.1:g.4992G>A
NG_008884.2:g.12014G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643284.1:n.521-5552G>A
ENST00000644611.1:c.76-5552G>A	ENSP00000495423.1:n.76-5552G>A
XM_011533029.1:c.76-5552G>A	XP_011531331.1:n.76-5552G>A
XM_011533030.1:c.76-5552G>A	XP_011531332.1:n.76-5552G>A
XM_011533031.1:c.-153-5552G>A	XP_011531333.1:n.-153-5552G>A
XR_939707.1:n.566-5552G>A
XM_011533029.2:c.76-5552G>A	XP_011531331.1:n.76-5552G>A
XM_011533030.2:c.76-5552G>A	XP_011531332.1:n.76-5552G>A
XR_001738891.1:n.580-5552G>A
XR_939707.2:n.580-5552G>A