Canonical Allele Identifier: CA1063282291

Gene:

Linked Data

• dbSNP Id: rs1756232714
• gnomAD v3: 4-62558467-T-C
• gnomAD v4: 4-62558467-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.62558467T>C , CM000666.2:g.62558467T>C	GRCh38
NC_000004.11:g.63424185T>C , CM000666.1:g.63424185T>C	GRCh37
NC_000004.10:g.63106780T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_938814.1:n.161-5377T>C