Canonical Allele Identifier: CA532703119
Gene: ABCG8 HGNC NCBI

Linked Data

dbSNP Id: rs1291471947
gnomAD v2: 2-44073565-A-C
gnomAD v3: 2-43846426-A-C
gnomAD v4: 2-43846426-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43846426A>C , CM000664.2:g.43846426A>C GRCh38
NC_000002.11:g.44073565A>C , CM000664.1:g.44073565A>C GRCh37
NC_000002.10:g.43927069A>C NCBI36
NG_008884.1:g.12463A>C
NG_008884.2:g.19485A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000272286.4:c.322+115A>C MANE Select ENSP00000272286.2:n.322+115A>C
ENST00000643284.1:n.894A>C
ENST00000644611.1:c.334+115A>C ENSP00000495423.1:n.334+115A>C
ENST00000272286.2:c.322+115A>C ENSP00000272286.2:n.322+115A>C
NM_022437.2:c.322+115A>C NP_071882.1:n.322+115A>C
XM_005264483.2:c.322+115A>C XP_005264540.1:n.322+115A>C
XM_011533029.1:c.334+115A>C XP_011531331.1:n.334+115A>C
XM_011533030.1:c.334+115A>C XP_011531332.1:n.334+115A>C
XM_011533031.1:c.106+115A>C XP_011531333.1:n.106+115A>C
XR_939707.1:n.824+115A>C
NM_001357321.1:c.322+115A>C NP_001344250.1:n.322+115A>C
XM_011533029.2:c.334+115A>C XP_011531331.1:n.334+115A>C
XM_011533030.2:c.334+115A>C XP_011531332.1:n.334+115A>C
XR_001738891.1:n.838+115A>C
XR_939707.2:n.838+115A>C
NM_022437.3:c.322+115A>C MANE Select NP_071882.1:n.322+115A>C
NM_001357321.2:c.322+115A>C NP_001344250.1:n.322+115A>C