Canonical Allele Identifier: CA290475905

Gene: CASC3

Linked Data

• dbSNP Id: rs536978637
• gnomAD v2: 17-38303541-G-A
• gnomAD v3: 17-40147288-G-A
• gnomAD v4: 17-40147288-G-A
• MyVariant Identifiers: chr17:g.38303541G>A (hg19) ; chr17:g.40147288G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40147288G>A , CM000679.2:g.40147288G>A	GRCh38
NC_000017.10:g.38303541G>A , CM000679.1:g.38303541G>A	GRCh37
NC_000017.9:g.35557067G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264645.12:c.297+5681G>A MANE Select	ENSP00000264645.6:n.297+5681G>A
ENST00000264645.11:c.297+5681G>A	ENSP00000264645.6:n.297+5681G>A
ENST00000418132.7:n.528+5681G>A
ENST00000581849.1:n.309+5681G>A
ENST00000584997.1:c.87+5681G>A	ENSP00000467654.1:n.87+5681G>A
NM_007359.4:c.297+5681G>A	NP_031385.2:n.297+5681G>A
XM_005257163.1:c.297+5681G>A	XP_005257220.1:n.297+5681G>A
XR_934422.1:n.370+5681G>A
XM_005257163.2:c.297+5681G>A	XP_005257220.1:n.297+5681G>A
XR_001752451.2:n.340+5681G>A
XR_002957984.1:n.340+5681G>A
XR_002957985.1:n.340+5681G>A
XR_934422.3:n.340+5681G>A
NM_007359.5:c.297+5681G>A MANE Select	NP_031385.2:n.297+5681G>A