Canonical Allele Identifier: CA1030310

Gene: VTCN1

Linked Data

• dbSNP Id: rs755103637
• ExAC: 1:117690347 C / T
• gnomAD v2: 1-117690347-C-T
• gnomAD v4: 1-117147725-C-T
• MyVariant Identifiers: chr1:g.117690347C>T (hg19) ; chr1:g.117147725C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.117147725C>T , CM000663.2:g.117147725C>T	GRCh38
NC_000001.10:g.117690347C>T , CM000663.1:g.117690347C>T	GRCh37
NC_000001.9:g.117491870C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369458.8:c.782G>A MANE Select	ENSP00000358470.3:p.Cys261Tyr
ENST00000328189.7:c.434G>A	ENSP00000328168.3:p.Cys145Tyr
ENST00000359008.8:c.791G>A	ENSP00000351899.4:p.Cys264Tyr
ENST00000369458.7:c.782G>A	ENSP00000358470.3:p.Cys261Tyr
ENST00000539893.5:c.497G>A	ENSP00000444724.1:p.Cys166Tyr
NM_001253849.1:c.497G>A	NP_001240778.1:p.Cys166Tyr
NM_001253850.1:c.434G>A	NP_001240779.1:p.Cys145Tyr
NM_024626.3:c.782G>A	NP_078902.2:p.Cys261Tyr
NR_045603.1:n.977G>A
NR_045604.1:n.681G>A
XM_011542143.1:c.833G>A	XP_011540445.1:p.Cys278Tyr
XM_011542144.1:c.836G>A	XP_011540446.1:p.Cys279Tyr
XM_011542145.1:c.797G>A	XP_011540447.1:p.Cys266Tyr
XM_011542143.2:c.932G>A	XP_011540445.2:p.Cys311Tyr
XM_017002335.2:c.797G>A	XP_016857824.1:p.Cys266Tyr
NM_024626.4:c.782G>A MANE Select	NP_078902.2:p.Cys261Tyr
NR_045603.2:n.944G>A
NR_045604.2:n.648G>A
NM_001253849.2:c.497G>A	NP_001240778.1:p.Cys166Tyr
NM_001253850.2:c.434G>A	NP_001240779.1:p.Cys145Tyr