Allele Registry

Canonical Allele Identifier: CA103135852

Gene:

MyVariant.info:

GRCh38 chr4:g.102778621T>C

GRCh37 chr4:g.103699778T>C

gnomAD v2:

4:103699778 T / C

gnomAD v3:

4:102778621 T / C

gnomAD v4:

chr4-102778621-T-C

Joint Max Group AF 0.98760898 (AFR)

Genomes Max Group AF 0.98760898 (AFR)

dbSNP:

223469

HGVS	Genome Assembly
NC_000004.12:g.102778621T>C , CM000666.2:g.102778621T>C	GRCh38
NC_000004.11:g.103699778T>C , CM000666.1:g.103699778T>C	GRCh37

HGVS	Amino-acid Change
NR_125932.1:n.713-187T>C