Canonical Allele Identifier: CA253362
Gene: ABCG8 HGNC NCBI

Linked Data

ClinVar Variation Id: 4969
dbSNP Id: rs137852989
gnomAD v2: 2-44105004-C-G
gnomAD v3: 2-43877865-C-G
gnomAD v4: 2-43877865-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43877865C>G , CM000664.2:g.43877865C>G GRCh38
NC_000002.11:g.44105004C>G , CM000664.1:g.44105004C>G GRCh37
NC_000002.10:g.43958508C>G NCBI36
NG_008884.1:g.43902C>G
NG_008884.2:g.50924C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.1974C>G MANE Select ENSP00000272286.2:p.Tyr658Ter
ENST00000272286.2:c.1974C>G ENSP00000272286.2:p.Tyr658Ter
NM_022437.2:c.1974C>G NP_071882.1:p.Tyr658Ter
XM_005264483.2:c.1971C>G XP_005264540.1:p.Tyr657Ter
XM_011533029.1:c.1986C>G XP_011531331.1:p.Tyr662Ter
XM_011533030.1:c.1983C>G XP_011531332.1:p.Tyr661Ter
XM_011533031.1:c.1758C>G XP_011531333.1:p.Tyr586Ter
XR_939707.1:n.2476C>G
NM_001357321.1:c.1971C>G NP_001344250.1:p.Tyr657Ter
XM_011533029.2:c.1986C>G XP_011531331.1:p.Tyr662Ter
XM_011533030.2:c.1983C>G XP_011531332.1:p.Tyr661Ter
XR_001738891.1:n.2490C>G
XR_939707.2:n.2490C>G
NM_022437.3:c.1974C>G MANE Select NP_071882.1:p.Tyr658Ter
NM_001357321.2:c.1971C>G NP_001344250.1:p.Tyr657Ter