Canonical Allele Identifier: CA989591504

Gene:

Linked Data

• dbSNP Id: rs1910120435
• gnomAD v3: 18-41477817-G-C
• gnomAD v4: 18-41477817-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.41477817G>C , CM000680.2:g.41477817G>C	GRCh38
NC_000018.9:g.39057781G>C , CM000680.1:g.39057781G>C	GRCh37
NC_000018.8:g.37311779G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_935409.1:n.86-26317G>C