Canonical Allele Identifier: CA306408653

Gene:

Linked Data

• dbSNP Id: rs947411832
• gnomAD v2: 19-20329284-T-C
• gnomAD v3: 19-20218475-T-C
• gnomAD v4: 19-20218475-T-C
• MyVariant Identifiers: chr19:g.20329284_20329287delinsCCTA (hg19) ; chr19:g.20218475T>C (hg38) ; chr19:g.20218475_20218478delinsCCTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.20218475T>C , CM000681.2:g.20218475T>C	GRCh38
NC_000019.9:g.20329284T>C , CM000681.1:g.20329284T>C	GRCh37
NC_000019.8:g.20190284T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_936388.1:n.619-1159A>G
XR_936389.1:n.502-1159A>G
XR_936390.1:n.511-1159A>G
XR_936391.1:n.514-1159A>G
XR_936392.1:n.514-1159A>G
XR_936394.1:n.41-259T>C
XR_001754063.2:n.1506-1159A>G
XR_001754064.2:n.138-1159A>G
XR_001754066.1:n.3912-1159A>G
XR_001754067.1:n.3912-1159A>G
XR_001754068.1:n.3912-1159A>G
XR_936394.2:n.41-259T>C
XR_936406.2:n.1411-1159A>G