Canonical Allele Identifier: CA341808264

Gene: VTCN1

Linked Data

• dbSNP Id: rs1035220219
• gnomAD v3: 1-117147731-G-A
• gnomAD v4: 1-117147731-G-A
• MyVariant Identifiers: chr1:g.117690353G>A (hg19) ; chr1:g.117147731G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.117147731G>A , CM000663.2:g.117147731G>A	GRCh38
NC_000001.10:g.117690353G>A , CM000663.1:g.117690353G>A	GRCh37
NC_000001.9:g.117491876G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369458.8:c.776C>T MANE Select	ENSP00000358470.3:p.Ser259Phe
ENST00000328189.7:c.428C>T	ENSP00000328168.3:p.Ser143Phe
ENST00000359008.8:c.785C>T	ENSP00000351899.4:p.Ser262Phe
ENST00000369458.7:c.776C>T	ENSP00000358470.3:p.Ser259Phe
ENST00000539893.5:c.491C>T	ENSP00000444724.1:p.Ser164Phe
NM_001253849.1:c.491C>T	NP_001240778.1:p.Ser164Phe
NM_001253850.1:c.428C>T	NP_001240779.1:p.Ser143Phe
NM_024626.3:c.776C>T	NP_078902.2:p.Ser259Phe
NR_045603.1:n.971C>T
NR_045604.1:n.675C>T
XM_011542143.1:c.827C>T	XP_011540445.1:p.Ser276Phe
XM_011542144.1:c.830C>T	XP_011540446.1:p.Ser277Phe
XM_011542145.1:c.791C>T	XP_011540447.1:p.Ser264Phe
XM_011542143.2:c.926C>T	XP_011540445.2:p.Ser309Phe
XM_017002335.2:c.791C>T	XP_016857824.1:p.Ser264Phe
NM_024626.4:c.776C>T MANE Select	NP_078902.2:p.Ser259Phe
NR_045603.2:n.938C>T
NR_045604.2:n.642C>T
NM_001253849.2:c.491C>T	NP_001240778.1:p.Ser164Phe
NM_001253850.2:c.428C>T	NP_001240779.1:p.Ser143Phe