Canonical Allele Identifier: CA626849258

Gene:

Linked Data

• dbSNP Id: rs1444250296
• gnomAD v2: 17-61583690-A-T
• gnomAD v3: 17-63506329-A-T
• gnomAD v4: 17-63506329-A-T
• MyVariant Identifiers: chr17:g.61583690A>T (hg19) ; chr17:g.63506329A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63506329A>T , CM000679.2:g.63506329A>T	GRCh38
NC_000017.10:g.61583690A>T , CM000679.1:g.61583690A>T	GRCh37
NC_000017.9:g.58937422A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000577647.2:c.1970-727A>T	ENSP00000464149.1:n.1970-727A>T