Canonical Allele Identifier: CA773975239

Gene:

Linked Data

• dbSNP Id: rs1195333816
• gnomAD v3: 17-63498382-C-T
• gnomAD v4: 17-63498382-C-T
• MyVariant Identifiers: chr17:g.61575743C>T (hg19) ; chr17:g.63498382C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63498382C>T , CM000679.2:g.63498382C>T	GRCh38
NC_000017.10:g.61575743C>T , CM000679.1:g.61575743C>T	GRCh37
NC_000017.9:g.58929475C>T	NCBI36
NG_011648.1:g.26310C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000577647.2:c.1969+1397C>T	ENSP00000464149.1:n.1969+1397C>T