Canonical Allele Identifier: CA292891018

Gene:

Linked Data

• dbSNP Id: rs1014607596
• gnomAD v2: 17-61575773-G-A
• gnomAD v3: 17-63498412-G-A
• gnomAD v4: 17-63498412-G-A
• MyVariant Identifiers: chr17:g.61575773G>A (hg19) ; chr17:g.63498412G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63498412G>A , CM000679.2:g.63498412G>A	GRCh38
NC_000017.10:g.61575773G>A , CM000679.1:g.61575773G>A	GRCh37
NC_000017.9:g.58929505G>A	NCBI36
NG_011648.1:g.26340G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000577647.2:c.1969+1427G>A	ENSP00000464149.1:n.1969+1427G>A