Canonical Allele Identifier: CA624727095

Gene:

Linked Data

• dbSNP Id: rs1476691932
• gnomAD v2: 17-8041065-A-C
• gnomAD v3: 17-8137747-A-C
• gnomAD v4: 17-8137747-A-C
• MyVariant Identifiers: chr17:g.8041065A>C (hg19) ; chr17:g.8137747A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8137747A>C , CM000679.2:g.8137747A>C	GRCh38
NC_000017.10:g.8041065A>C , CM000679.1:g.8041065A>C	GRCh37
NC_000017.9:g.7981790A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934202.1:n.183-1102A>C
XR_934203.1:n.70-1730A>C
XR_934202.2:n.414-1102A>C