Canonical Allele Identifier: CA788493139

Gene:

Linked Data

• dbSNP Id: rs1411590325
• gnomAD v3: 4-144601438-T-C
• gnomAD v4: 4-144601438-T-C
• MyVariant Identifiers: chr4:g.145522590T>C (hg19) ; chr4:g.144601438T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144601438T>C , CM000666.2:g.144601438T>C	GRCh38
NC_000004.11:g.145522590T>C , CM000666.1:g.145522590T>C	GRCh37
NC_000004.10:g.145742040T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-185460A>G	ENSP00000497507.1:n.328-185460A>G