Canonical Allele Identifier: CA341808143

Gene: VTCN1

Linked Data

• dbSNP Id: rs756445973
• gnomAD v2: 1-117690323-C-G
• gnomAD v4: 1-117147701-C-G
• MyVariant Identifiers: chr1:g.117690323C>G (hg19) ; chr1:g.117147701C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.117147701C>G , CM000663.2:g.117147701C>G	GRCh38
NC_000001.10:g.117690323C>G , CM000663.1:g.117690323C>G	GRCh37
NC_000001.9:g.117491846C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369458.8:c.806G>C MANE Select	ENSP00000358470.3:p.Ser269Thr
ENST00000328189.7:c.458G>C	ENSP00000328168.3:p.Ser153Thr
ENST00000359008.8:c.815G>C	ENSP00000351899.4:p.Ser272Thr
ENST00000369458.7:c.806G>C	ENSP00000358470.3:p.Ser269Thr
ENST00000539893.5:c.521G>C	ENSP00000444724.1:p.Ser174Thr
NM_001253849.1:c.521G>C	NP_001240778.1:p.Ser174Thr
NM_001253850.1:c.458G>C	NP_001240779.1:p.Ser153Thr
NM_024626.3:c.806G>C	NP_078902.2:p.Ser269Thr
NR_045603.1:n.1001G>C
NR_045604.1:n.705G>C
XM_011542143.1:c.857G>C	XP_011540445.1:p.Ser286Thr
XM_011542144.1:c.860G>C	XP_011540446.1:p.Ser287Thr
XM_011542145.1:c.821G>C	XP_011540447.1:p.Ser274Thr
XM_011542143.2:c.956G>C	XP_011540445.2:p.Ser319Thr
XM_017002335.2:c.821G>C	XP_016857824.1:p.Ser274Thr
NM_024626.4:c.806G>C MANE Select	NP_078902.2:p.Ser269Thr
NR_045603.2:n.968G>C
NR_045604.2:n.672G>C
NM_001253849.2:c.521G>C	NP_001240778.1:p.Ser174Thr
NM_001253850.2:c.458G>C	NP_001240779.1:p.Ser153Thr