Canonical Allele Identifier: CA1069062249

Gene:

Linked Data

• dbSNP Id: rs1727416675
• gnomAD v3: 4-144601612-G-A
• gnomAD v4: 4-144601612-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144601612G>A , CM000666.2:g.144601612G>A	GRCh38
NC_000004.11:g.145522764G>A , CM000666.1:g.145522764G>A	GRCh37
NC_000004.10:g.145742214G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000649263.1:c.328-185634C>T	ENSP00000497507.1:n.328-185634C>T