Canonical Allele Identifier: CA786695529

Gene:

Linked Data

• dbSNP Id: rs1317990500
• gnomAD v3: 4-12578131-C-G
• gnomAD v4: 4-12578131-C-G
• MyVariant Identifiers: chr4:g.12579755C>G (hg19) ; chr4:g.12578131C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.12578131C>G , CM000666.2:g.12578131C>G	GRCh38
NC_000004.11:g.12579755C>G , CM000666.1:g.12579755C>G	GRCh37
NC_000004.10:g.12188853C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_925406.1:n.106+31211G>C
XR_001741374.1:n.254+44524G>C
XR_925406.3:n.140+31211G>C