Canonical Allele Identifier: CA290475857

Gene: CASC3

Linked Data

• dbSNP Id: rs538132362
• gnomAD v2: 17-38303497-A-G
• gnomAD v3: 17-40147244-A-G
• gnomAD v4: 17-40147244-A-G
• MyVariant Identifiers: chr17:g.38303497A>G (hg19) ; chr17:g.40147244A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40147244A>G , CM000679.2:g.40147244A>G	GRCh38
NC_000017.10:g.38303497A>G , CM000679.1:g.38303497A>G	GRCh37
NC_000017.9:g.35557023A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264645.12:c.297+5637A>G MANE Select	ENSP00000264645.6:n.297+5637A>G
ENST00000264645.11:c.297+5637A>G	ENSP00000264645.6:n.297+5637A>G
ENST00000418132.7:n.528+5637A>G
ENST00000581849.1:n.309+5637A>G
ENST00000584997.1:c.87+5637A>G	ENSP00000467654.1:n.87+5637A>G
NM_007359.4:c.297+5637A>G	NP_031385.2:n.297+5637A>G
XM_005257163.1:c.297+5637A>G	XP_005257220.1:n.297+5637A>G
XR_934422.1:n.370+5637A>G
XM_005257163.2:c.297+5637A>G	XP_005257220.1:n.297+5637A>G
XR_001752451.2:n.340+5637A>G
XR_002957984.1:n.340+5637A>G
XR_002957985.1:n.340+5637A>G
XR_934422.3:n.340+5637A>G
NM_007359.5:c.297+5637A>G MANE Select	NP_031385.2:n.297+5637A>G