Canonical Allele Identifier: CA788493175

Gene:

Linked Data

• dbSNP Id: rs1349962127
• gnomAD v3: 4-144601529-T-G
• gnomAD v4: 4-144601529-T-G
• MyVariant Identifiers: chr4:g.145522681T>G (hg19) ; chr4:g.144601529T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144601529T>G , CM000666.2:g.144601529T>G	GRCh38
NC_000004.11:g.145522681T>G , CM000666.1:g.145522681T>G	GRCh37
NC_000004.10:g.145742131T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-185551A>C	ENSP00000497507.1:n.328-185551A>C