Canonical Allele Identifier: CA573138638

Gene:

Linked Data

• dbSNP Id: rs1163135105
• gnomAD v2: 7-17997498-C-T
• gnomAD v3: 7-17957875-C-T
• gnomAD v4: 7-17957875-C-T
• MyVariant Identifiers: chr7:g.17997498C>T (hg19) ; chr7:g.17957875C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.17957875C>T , CM000669.2:g.17957875C>T	GRCh38
NC_000007.13:g.17997498C>T , CM000669.1:g.17997498C>T	GRCh37
NC_000007.12:g.17964023C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_927078.1:n.271-795C>T