Canonical Allele Identifier: CA1030305

Gene: VTCN1

Linked Data

• dbSNP Id: rs750857654
• ExAC: 1:117690318 C / T
• gnomAD v2: 1-117690318-C-T
• gnomAD v4: 1-117147696-C-T
• MyVariant Identifiers: chr1:g.117690318C>T (hg19) ; chr1:g.117147696C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.117147696C>T , CM000663.2:g.117147696C>T	GRCh38
NC_000001.10:g.117690318C>T , CM000663.1:g.117690318C>T	GRCh37
NC_000001.9:g.117491841C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369458.8:c.811G>A MANE Select	ENSP00000358470.3:p.Ala271Thr
ENST00000328189.7:c.463G>A	ENSP00000328168.3:p.Ala155Thr
ENST00000359008.8:c.820G>A	ENSP00000351899.4:p.Ala274Thr
ENST00000369458.7:c.811G>A	ENSP00000358470.3:p.Ala271Thr
ENST00000539893.5:c.526G>A	ENSP00000444724.1:p.Ala176Thr
NM_001253849.1:c.526G>A	NP_001240778.1:p.Ala176Thr
NM_001253850.1:c.463G>A	NP_001240779.1:p.Ala155Thr
NM_024626.3:c.811G>A	NP_078902.2:p.Ala271Thr
NR_045603.1:n.1006G>A
NR_045604.1:n.710G>A
XM_011542143.1:c.862G>A	XP_011540445.1:p.Ala288Thr
XM_011542144.1:c.865G>A	XP_011540446.1:p.Ala289Thr
XM_011542145.1:c.826G>A	XP_011540447.1:p.Ala276Thr
XM_011542143.2:c.961G>A	XP_011540445.2:p.Ala321Thr
XM_017002335.2:c.826G>A	XP_016857824.1:p.Ala276Thr
NM_024626.4:c.811G>A MANE Select	NP_078902.2:p.Ala271Thr
NR_045603.2:n.973G>A
NR_045604.2:n.677G>A
NM_001253849.2:c.526G>A	NP_001240778.1:p.Ala176Thr
NM_001253850.2:c.463G>A	NP_001240779.1:p.Ala155Thr