Canonical Allele Identifier: CA2658820477

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43838943-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43838943C>A , CM000664.2:g.43838943C>A	GRCh38
NC_000002.11:g.44066082C>A , CM000664.1:g.44066082C>A	GRCh37
NC_000002.10:g.43919586C>A	NCBI36
NG_008883.1:g.4877G>T
NG_008884.1:g.4980C>A
NG_008884.2:g.12002C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643284.1:n.521-5564C>A
ENST00000644611.1:c.76-5564C>A	ENSP00000495423.1:n.76-5564C>A
XM_011533029.1:c.76-5564C>A	XP_011531331.1:n.76-5564C>A
XM_011533030.1:c.76-5564C>A	XP_011531332.1:n.76-5564C>A
XM_011533031.1:c.-153-5564C>A	XP_011531333.1:n.-153-5564C>A
XR_939707.1:n.566-5564C>A
XM_011533029.2:c.76-5564C>A	XP_011531331.1:n.76-5564C>A
XM_011533030.2:c.76-5564C>A	XP_011531332.1:n.76-5564C>A
XR_001738891.1:n.580-5564C>A
XR_939707.2:n.580-5564C>A