Canonical Allele Identifier: CA343788
Gene: ABCG8 HGNC NCBI

Linked Data

ClinVar Variation Id: 39520
dbSNP Id: rs137854891
gnomAD v2: 2-44073448-C-G
gnomAD v4: 2-43846309-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43846309C>G , CM000664.2:g.43846309C>G GRCh38
NC_000002.11:g.44073448C>G , CM000664.1:g.44073448C>G GRCh37
NC_000002.10:g.43926952C>G NCBI36
NG_008884.1:g.12346C>G
NG_008884.2:g.19368C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.320C>G MANE Select ENSP00000272286.2:p.Ser107Ter
ENST00000643284.1:n.777C>G
ENST00000644611.1:c.332C>G ENSP00000495423.1:p.Ser111Ter
ENST00000272286.2:c.320C>G ENSP00000272286.2:p.Ser107Ter
NM_022437.2:c.320C>G NP_071882.1:p.Ser107Ter
XM_005264483.2:c.320C>G XP_005264540.1:p.Ser107Ter
XM_011533029.1:c.332C>G XP_011531331.1:p.Ser111Ter
XM_011533030.1:c.332C>G XP_011531332.1:p.Ser111Ter
XM_011533031.1:c.104C>G XP_011531333.1:p.Ser35Ter
XR_939707.1:n.822C>G
NM_001357321.1:c.320C>G NP_001344250.1:p.Ser107Ter
XM_011533029.2:c.332C>G XP_011531331.1:p.Ser111Ter
XM_011533030.2:c.332C>G XP_011531332.1:p.Ser111Ter
XR_001738891.1:n.836C>G
XR_939707.2:n.836C>G
NM_022437.3:c.320C>G MANE Select NP_071882.1:p.Ser107Ter
NM_001357321.2:c.320C>G NP_001344250.1:p.Ser107Ter