Canonical Allele Identifier: CA549812909

Gene:

Linked Data

• dbSNP Id: rs1227731314
• gnomAD v2: 4-12579883-A-G
• MyVariant Identifiers: chr4:g.12579883A>G (hg19) ; chr4:g.12578259A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.12578259A>G , CM000666.2:g.12578259A>G	GRCh38
NC_000004.11:g.12579883A>G , CM000666.1:g.12579883A>G	GRCh37
NC_000004.10:g.12188981A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_925406.1:n.106+31083T>C
XR_001741374.1:n.254+44396T>C
XR_925406.3:n.140+31083T>C