Canonical Allele Identifier: CA289219296

Gene:

Linked Data

• dbSNP Id: rs571775139
• gnomAD v3: 17-29376295-A-C
• gnomAD v4: 17-29376295-A-C
• MyVariant Identifiers: chr17:g.27703313A>C (hg19) ; chr17:g.29376295A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.29376295A>C , CM000679.2:g.29376295A>C	GRCh38
NC_000017.10:g.27703313A>C , CM000679.1:g.27703313A>C	GRCh37
NC_000017.9:g.24727439A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011525588.1:c.1008-5990T>G	XP_011523890.1:n.1008-5990T>G