Canonical Allele Identifier: CA175153964

Gene:

Linked Data

• dbSNP Id: rs541417608
• gnomAD v2: 8-33665724-C-G
• MyVariant Identifiers: chr8:g.33665724C>G (hg19) ; chr8:g.33808206C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.33808206C>G , CM000670.2:g.33808206C>G	GRCh38
NC_000008.10:g.33665724C>G , CM000670.1:g.33665724C>G	GRCh37
NC_000008.9:g.33785266C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_949659.1:n.240+11770C>G
XR_002956701.1:n.240+11770C>G