Canonical Allele Identifier: CA573138637

Gene:

Linked Data

• dbSNP Id: rs1410629970
• gnomAD v2: 7-17997497-A-C
• gnomAD v3: 7-17957874-A-C
• gnomAD v4: 7-17957874-A-C
• MyVariant Identifiers: chr7:g.17997497A>C (hg19) ; chr7:g.17957874A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.17957874A>C , CM000669.2:g.17957874A>C	GRCh38
NC_000007.13:g.17997497A>C , CM000669.1:g.17997497A>C	GRCh37
NC_000007.12:g.17964022A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_927078.1:n.271-796A>C