Canonical Allele Identifier: CA786695567

Gene:

Linked Data

• dbSNP Id: rs1486904125
• gnomAD v3: 4-12578287-G-A
• gnomAD v4: 4-12578287-G-A
• MyVariant Identifiers: chr4:g.12579911G>A (hg19) ; chr4:g.12578287G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.12578287G>A , CM000666.2:g.12578287G>A	GRCh38
NC_000004.11:g.12579911G>A , CM000666.1:g.12579911G>A	GRCh37
NC_000004.10:g.12189009G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_925406.1:n.106+31055C>T
XR_001741374.1:n.254+44368C>T
XR_925406.3:n.140+31055C>T