Canonical Allele Identifier: CA1118991776

Gene:

Linked Data

• dbSNP Id: rs1814932069
• gnomAD v3: 8-126999185-T-C
• gnomAD v4: 8-126999185-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.126999185T>C , CM000670.2:g.126999185T>C	GRCh38
NC_000008.10:g.128011430T>C , CM000670.1:g.128011430T>C	GRCh37
NC_000008.9:g.128080612T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001746076.2:n.1301-7370T>C