Canonical Allele Identifier: CA769083255

Gene: ABCG8

Linked Data

• dbSNP Id: rs969838311
• gnomAD v3: 2-43877976-C-G
• gnomAD v4: 2-43877976-C-G
• MyVariant Identifiers: chr2:g.44105115C>G (hg19) ; chr2:g.43877976C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877976C>G , CM000664.2:g.43877976C>G	GRCh38
NC_000002.11:g.44105115C>G , CM000664.1:g.44105115C>G	GRCh37
NC_000002.10:g.43958619C>G	NCBI36
NG_008884.1:g.44013C>G
NG_008884.2:g.51035C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.*63C>G MANE Select	ENSP00000272286.2:n.*63C>G
ENST00000272286.2:c.*63C>G	ENSP00000272286.2:n.*63C>G
NM_022437.2:c.*63C>G	NP_071882.1:n.*63C>G
XM_005264483.2:c.*63C>G	XP_005264540.1:n.*63C>G
XM_011533029.1:c.*63C>G	XP_011531331.1:n.*63C>G
XM_011533030.1:c.*63C>G	XP_011531332.1:n.*63C>G
XM_011533031.1:c.*63C>G	XP_011531333.1:n.*63C>G
XR_939707.1:n.2587C>G
NM_001357321.1:c.*63C>G	NP_001344250.1:n.*63C>G
XM_011533029.2:c.*63C>G	XP_011531331.1:n.*63C>G
XM_011533030.2:c.*63C>G	XP_011531332.1:n.*63C>G
XR_001738891.1:n.2601C>G
XR_939707.2:n.2601C>G
NM_022437.3:c.*63C>G MANE Select	NP_071882.1:n.*63C>G
NM_001357321.2:c.*63C>G	NP_001344250.1:n.*63C>G