Canonical Allele Identifier: CA1637546
Gene: ABCG8 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.43875225C>T
GRCh37 chr2:g.44102364C>T
Revel Score:
ENST00000272286 (MANE Select) 0.506
gnomAD v2:
2:44102364 C / T
gnomAD v3:
2:43875225 C / T
gnomAD v4:
chr2-43875225-C-T
Joint Max Group AF 0.00539799 (SAS)
Genomes Max Group AF 0.00642624 (SAS)
Exomes Max Group AF 0.00524243 (SAS)
ClinVar Allele:
289801
ClinVar RCV:
RCV000357070
RCV001699467
RCV002402061
ClinVar Variation:
336084
dbSNP:
558635043
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43875225C>T , CM000664.2:g.43875225C>T GRCh38
NC_000002.11:g.44102364C>T , CM000664.1:g.44102364C>T GRCh37
NC_000002.10:g.43955868C>T NCBI36
NG_008884.1:g.41262C>T
NG_008884.2:g.48284C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.1568C>T MANE Select ENSP00000272286.2:p.Pro523Leu
ENST00000272286.2:c.1568C>T ENSP00000272286.2:p.Pro523Leu
NM_022437.2:c.1568C>T NP_071882.1:p.Pro523Leu
XM_005264483.2:c.1565C>T XP_005264540.1:p.Pro522Leu
XM_011533029.1:c.1580C>T XP_011531331.1:p.Pro527Leu
XM_011533030.1:c.1577C>T XP_011531332.1:p.Pro526Leu
XM_011533031.1:c.1352C>T XP_011531333.1:p.Pro451Leu
XR_939707.1:n.2070C>T
NM_001357321.1:c.1565C>T NP_001344250.1:p.Pro522Leu
XM_011533029.2:c.1580C>T XP_011531331.1:p.Pro527Leu
XM_011533030.2:c.1577C>T XP_011531332.1:p.Pro526Leu
XR_001738891.1:n.2084C>T
XR_939707.2:n.2084C>T
NM_022437.3:c.1568C>T MANE Select NP_071882.1:p.Pro523Leu
NM_001357321.2:c.1565C>T NP_001344250.1:p.Pro522Leu
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