Canonical Allele Identifier: CA738562766

Gene:

Linked Data

• dbSNP Id: rs1432639
• gnomAD v3: 1-72347535-C-T
• gnomAD v4: 1-72347535-C-T
• MyVariant Identifiers: chr1:g.72813218C>T (hg19) ; chr1:g.72347535C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.72347535C>T , CM000663.2:g.72347535C>T	GRCh38
NC_000001.10:g.72813218C>T , CM000663.1:g.72813218C>T	GRCh37
NC_000001.9:g.72585806C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_947505.1:n.310+64130C>T
XR_947506.1:n.310+64130C>T
XR_947507.1:n.310+64130C>T
XR_001737670.1:n.414+64130C>T
XR_001737671.2:n.418+64130C>T
XR_947505.2:n.414+64130C>T
XR_947506.2:n.414+64130C>T