Canonical Allele Identifier: CA1775343079

Gene:

Linked Data

• dbSNP Id: rs1802340286
• gnomAD v3: 8-33808166-C-T
• gnomAD v4: 8-33808166-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.33808166C>T , CM000670.2:g.33808166C>T	GRCh38
NC_000008.10:g.33665684C>T , CM000670.1:g.33665684C>T	GRCh37
NC_000008.9:g.33785226C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_949659.1:n.240+11730C>T
XR_002956701.1:n.240+11730C>T