Canonical Allele Identifier: CA788493113

Gene:

Linked Data

• dbSNP Id: rs993838689
• gnomAD v3: 4-144601418-C-A
• gnomAD v4: 4-144601418-C-A
• MyVariant Identifiers: chr4:g.145522570C>A (hg19) ; chr4:g.144601418C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144601418C>A , CM000666.2:g.144601418C>A	GRCh38
NC_000004.11:g.145522570C>A , CM000666.1:g.145522570C>A	GRCh37
NC_000004.10:g.145742020C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-185440G>T	ENSP00000497507.1:n.328-185440G>T