Canonical Allele Identifier: CA1116942186

Gene:

Linked Data

• dbSNP Id: rs1810404486
• gnomAD v3: 8-97269979-C-A
• gnomAD v4: 8-97269979-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.97269979C>A , CM000670.2:g.97269979C>A	GRCh38
NC_000008.10:g.98282207C>A , CM000670.1:g.98282207C>A	GRCh37
NC_000008.9:g.98351383C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_125390.1:n.471+149091G>T