Canonical Allele Identifier: CA1104780608

Gene:

Linked Data

• dbSNP Id: rs1789256958
• gnomAD v3: 7-97388435-A-C
• gnomAD v4: 7-97388435-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.97388435A>C , CM000669.2:g.97388435A>C	GRCh38
NC_000007.13:g.97017747A>C , CM000669.1:g.97017747A>C	GRCh37
NC_000007.12:g.96855683A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001745293.1:n.127-59788T>G