Canonical Allele Identifier: CA2658820498

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43838960-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43838960C>G , CM000664.2:g.43838960C>G	GRCh38
NC_000002.11:g.44066099C>G , CM000664.1:g.44066099C>G	GRCh37
NC_000002.10:g.43919603C>G	NCBI36
NG_008883.1:g.4860G>C
NG_008884.1:g.4997C>G
NG_008884.2:g.12019C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643284.1:n.521-5547C>G
ENST00000644611.1:c.76-5547C>G	ENSP00000495423.1:n.76-5547C>G
XM_011533029.1:c.76-5547C>G	XP_011531331.1:n.76-5547C>G
XM_011533030.1:c.76-5547C>G	XP_011531332.1:n.76-5547C>G
XM_011533031.1:c.-153-5547C>G	XP_011531333.1:n.-153-5547C>G
XR_939707.1:n.566-5547C>G
XM_011533029.2:c.76-5547C>G	XP_011531331.1:n.76-5547C>G
XM_011533030.2:c.76-5547C>G	XP_011531332.1:n.76-5547C>G
XR_001738891.1:n.580-5547C>G
XR_939707.2:n.580-5547C>G