Canonical Allele Identifier: CA1099865414

Gene:

Linked Data

• dbSNP Id: rs1790894982
• gnomAD v3: 7-30897417-A-C
• gnomAD v4: 7-30897417-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30897417A>C , CM000669.2:g.30897417A>C	GRCh38
NC_000007.13:g.30937032A>C , CM000669.1:g.30937032A>C	GRCh37
NC_000007.12:g.30903557A>C	NCBI36
NG_007475.2:g.49024A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509504.2:c.621+14424A>C