Canonical Allele Identifier: CA773963156

Gene:

Linked Data

• dbSNP Id: rs1342553404
• gnomAD v3: 17-63506440-G-T
• gnomAD v4: 17-63506440-G-T
• MyVariant Identifiers: chr17:g.61583801G>T (hg19) ; chr17:g.63506440G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63506440G>T , CM000679.2:g.63506440G>T	GRCh38
NC_000017.10:g.61583801G>T , CM000679.1:g.61583801G>T	GRCh37
NC_000017.9:g.58937533G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000577647.2:c.1970-616G>T	ENSP00000464149.1:n.1970-616G>T