Canonical Allele Identifier: CA1064182257

Gene:

Linked Data

• dbSNP Id: rs1721063901
• gnomAD v3: 4-74554149-C-A
• gnomAD v4: 4-74554149-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.74554149C>A , CM000666.2:g.74554149C>A	GRCh38
NC_000004.11:g.75419866C>A , CM000666.1:g.75419866C>A	GRCh37
NC_000004.10:g.75638730C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001741513.1:n.167-1317G>T