Canonical Allele Identifier: CA154890311

Gene:

Linked Data

• dbSNP Id: rs1035461193
• gnomAD v2: 7-17997553-C-T
• gnomAD v3: 7-17957930-C-T
• gnomAD v4: 7-17957930-C-T
• MyVariant Identifiers: chr7:g.17997553C>T (hg19) ; chr7:g.17957930C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.17957930C>T , CM000669.2:g.17957930C>T	GRCh38
NC_000007.13:g.17997553C>T , CM000669.1:g.17997553C>T	GRCh37
NC_000007.12:g.17964078C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_927078.1:n.271-740C>T