Canonical Allele Identifier: CA577662569

Gene:

Linked Data

• dbSNP Id: rs1227361088
• gnomAD v2: 7-123946459-C-T
• gnomAD v3: 7-124306405-C-T
• gnomAD v4: 7-124306405-C-T
• MyVariant Identifiers: chr7:g.123946459C>T (hg19) ; chr7:g.124306405C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.124306405C>T , CM000669.2:g.124306405C>T	GRCh38
NC_000007.13:g.123946459C>T , CM000669.1:g.123946459C>T	GRCh37
NC_000007.12:g.123733695C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_002956584.1:n.73-73C>T