Canonical Allele Identifier: CA2493945239
Gene: ABCG8 HGNC NCBI

Linked Data

dbSNP Id: rs1668746251
gnomAD v4: 2-43846445-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43846445G>C , CM000664.2:g.43846445G>C GRCh38
NC_000002.11:g.44073584G>C , CM000664.1:g.44073584G>C GRCh37
NC_000002.10:g.43927088G>C NCBI36
NG_008884.1:g.12482G>C
NG_008884.2:g.19504G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000272286.4:c.322+134G>C MANE Select ENSP00000272286.2:n.322+134G>C
ENST00000643284.1:n.913G>C
ENST00000644611.1:c.334+134G>C ENSP00000495423.1:n.334+134G>C
ENST00000272286.2:c.322+134G>C ENSP00000272286.2:n.322+134G>C
NM_022437.2:c.322+134G>C NP_071882.1:n.322+134G>C
XM_005264483.2:c.322+134G>C XP_005264540.1:n.322+134G>C
XM_011533029.1:c.334+134G>C XP_011531331.1:n.334+134G>C
XM_011533030.1:c.334+134G>C XP_011531332.1:n.334+134G>C
XM_011533031.1:c.106+134G>C XP_011531333.1:n.106+134G>C
XR_939707.1:n.824+134G>C
NM_001357321.1:c.322+134G>C NP_001344250.1:n.322+134G>C
XM_011533029.2:c.334+134G>C XP_011531331.1:n.334+134G>C
XM_011533030.2:c.334+134G>C XP_011531332.1:n.334+134G>C
XR_001738891.1:n.838+134G>C
XR_939707.2:n.838+134G>C
NM_022437.3:c.322+134G>C MANE Select NP_071882.1:n.322+134G>C
NM_001357321.2:c.322+134G>C NP_001344250.1:n.322+134G>C