Canonical Allele Identifier: CA1636856
Gene: ABCG8 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.43839089G>A
GRCh37 chr2:g.44066228G>A
gnomAD v2:
2:44066228 G / A
gnomAD v3:
2:43839089 G / A
gnomAD v4:
chr2-43839089-G-A
Joint Max Group AF 0.00002134 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00002059 (NFE)
ClinVar Allele:
289390
ClinVar RCV:
RCV000375988
RCV002348088
RCV003897766
ClinVar Variation:
336061
dbSNP:
368998235
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43839089G>A , CM000664.2:g.43839089G>A GRCh38
NC_000002.11:g.44066228G>A , CM000664.1:g.44066228G>A GRCh37
NC_000002.10:g.43919732G>A NCBI36
NG_008883.1:g.4731C>T
NG_008884.1:g.5126G>A
NG_008884.2:g.12148G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.36G>A MANE Select ENSP00000272286.2:p.Pro12=
ENST00000643284.1:n.521-5418G>A
ENST00000644611.1:c.76-5418G>A ENSP00000495423.1:n.76-5418G>A
ENST00000272286.2:c.36G>A ENSP00000272286.2:p.Pro12=
NM_022437.2:c.36G>A NP_071882.1:p.Pro12=
XM_005264483.2:c.36G>A XP_005264540.1:p.Pro12=
XM_011533029.1:c.76-5418G>A XP_011531331.1:n.76-5418G>A
XM_011533030.1:c.76-5418G>A XP_011531332.1:n.76-5418G>A
XM_011533031.1:c.-153-5418G>A XP_011531333.1:n.-153-5418G>A
XR_939707.1:n.566-5418G>A
NM_001357321.1:c.36G>A NP_001344250.1:p.Pro12=
XM_011533029.2:c.76-5418G>A XP_011531331.1:n.76-5418G>A
XM_011533030.2:c.76-5418G>A XP_011531332.1:n.76-5418G>A
XR_001738891.1:n.580-5418G>A
XR_939707.2:n.580-5418G>A
NM_022437.3:c.36G>A MANE Select NP_071882.1:p.Pro12=
NM_001357321.2:c.36G>A NP_001344250.1:p.Pro12=
Search 100 bp 5'
Search 100 bp 3'