Canonical Allele Identifier: CA107754175

Gene:

Linked Data

• dbSNP Id: rs570325315
• gnomAD v2: 4-145522812-T-C
• gnomAD v3: 4-144601660-T-C
• gnomAD v4: 4-144601660-T-C
• MyVariant Identifiers: chr4:g.145522812T>C (hg19) ; chr4:g.144601660T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144601660T>C , CM000666.2:g.144601660T>C	GRCh38
NC_000004.11:g.145522812T>C , CM000666.1:g.145522812T>C	GRCh37
NC_000004.10:g.145742262T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000649263.1:c.328-185682A>G	ENSP00000497507.1:n.328-185682A>G