Canonical Allele Identifier: CA15912745

Gene:

Linked Data

• dbSNP Id: rs4267385
• gnomAD v2: 17-61583756-C-T
• gnomAD v3: 17-63506395-C-T
• gnomAD v4: 17-63506395-C-T
• MyVariant Identifiers: chr17:g.61583756C>T (hg19) ; chr17:g.63506395C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63506395C>T , CM000679.2:g.63506395C>T	GRCh38
NC_000017.10:g.61583756C>T , CM000679.1:g.61583756C>T	GRCh37
NC_000017.9:g.58937488C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000577647.2:c.1970-661C>T	ENSP00000464149.1:n.1970-661C>T