Canonical Allele Identifier: CA93117883

Gene:

Linked Data

• dbSNP Id: rs1054868382
• gnomAD v3: 4-12578014-T-C
• gnomAD v4: 4-12578014-T-C
• MyVariant Identifiers: chr4:g.12579638T>C (hg19) ; chr4:g.12578014T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.12578014T>C , CM000666.2:g.12578014T>C	GRCh38
NC_000004.11:g.12579638T>C , CM000666.1:g.12579638T>C	GRCh37
NC_000004.10:g.12188736T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_925406.1:n.106+31328A>G
XR_001741374.1:n.254+44641A>G
XR_925406.3:n.140+31328A>G