Canonical Allele Identifier: CA10655794
Gene:
MyVariant.info:
GRCh38 chr1:g.2567423G>C
GRCh37 chr1:g.2498862G>C
gnomAD v2:
1:2498862 G / C
gnomAD v3:
1:2567423 G / C
gnomAD v4:
chr1-2567423-G-C
Joint Max Group AF 0.64345814 (SAS)
Genomes Max Group AF 0.64345814 (SAS)
dbSNP:
1555791
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2567423G>C , CM000663.2:g.2567423G>C GRCh38
NC_000001.10:g.2498862G>C , CM000663.1:g.2498862G>C GRCh37
NC_000001.9:g.2475556C>G NCBI36
NG_047096.1:g.16059G>C

Transcript Alleles

HGVS Amino-acid Change
NR_121638.1:n.71+818G>C
Search 100 bp 5'
Search 100 bp 3'