Canonical Allele Identifier: CA154393473
Gene:
dbSNP:
10255329
gnomAD v2:
7:13440222 G / C
gnomAD v3:
7:13400597 G / C
gnomAD v4:
chr7-13400597-G-C
Joint Max Group AF 0.12261123 (AFR)
Genomes Max Group AF 0.12261123 (AFR)
MyVariant.info:
GRCh38 chr7:g.13400597G>C
GRCh37 chr7:g.13440222G>C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13400597G>C , CM000669.2:g.13400597G>C GRCh38
NC_000007.13:g.13440222G>C , CM000669.1:g.13440222G>C GRCh37
NC_000007.12:g.13406747G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745097.1:n.147+90274G>C
Search 100 bp 5'
Search 100 bp 3'