Canonical Allele Identifier: CA532703125
Gene: ABCG8 HGNC NCBI

Linked Data

dbSNP Id: rs1406814111
gnomAD v2: 2-44073665-T-C
gnomAD v3: 2-43846526-T-C
gnomAD v4: 2-43846526-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43846526T>C , CM000664.2:g.43846526T>C GRCh38
NC_000002.11:g.44073665T>C , CM000664.1:g.44073665T>C GRCh37
NC_000002.10:g.43927169T>C NCBI36
NG_008884.1:g.12563T>C
NG_008884.2:g.19585T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000272286.4:c.322+215T>C MANE Select ENSP00000272286.2:n.322+215T>C
ENST00000643284.1:n.994T>C
ENST00000644611.1:c.334+215T>C ENSP00000495423.1:n.334+215T>C
ENST00000272286.2:c.322+215T>C ENSP00000272286.2:n.322+215T>C
NM_022437.2:c.322+215T>C NP_071882.1:n.322+215T>C
XM_005264483.2:c.322+215T>C XP_005264540.1:n.322+215T>C
XM_011533029.1:c.334+215T>C XP_011531331.1:n.334+215T>C
XM_011533030.1:c.334+215T>C XP_011531332.1:n.334+215T>C
XM_011533031.1:c.106+215T>C XP_011531333.1:n.106+215T>C
XR_939707.1:n.824+215T>C
NM_001357321.1:c.322+215T>C NP_001344250.1:n.322+215T>C
XM_011533029.2:c.334+215T>C XP_011531331.1:n.334+215T>C
XM_011533030.2:c.334+215T>C XP_011531332.1:n.334+215T>C
XR_001738891.1:n.838+215T>C
XR_939707.2:n.838+215T>C
NM_022437.3:c.322+215T>C MANE Select NP_071882.1:n.322+215T>C
NM_001357321.2:c.322+215T>C NP_001344250.1:n.322+215T>C