Canonical Allele Identifier: CA1069062215

Gene:

Linked Data

• dbSNP Id: rs1727416625
• gnomAD v3: 4-144601609-A-G
• gnomAD v4: 4-144601609-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144601609A>G , CM000666.2:g.144601609A>G	GRCh38
NC_000004.11:g.145522761A>G , CM000666.1:g.145522761A>G	GRCh37
NC_000004.10:g.145742211A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000649263.1:c.328-185631T>C	ENSP00000497507.1:n.328-185631T>C