Canonical Allele Identifier: CA4005736
Gene: VNN1 HGNC NCBI
COSMIC:
COSM3761488 (not active)
MyVariant.info:
GRCh38 chr6:g.132694132T>C
GRCh37 chr6:g.133015271T>C
Revel Score:
ENST00000367928 (MANE Select) 0.339
gnomAD v2:
6:133015271 T / C
gnomAD v3:
6:132694132 T / C
gnomAD v4:
chr6-132694132-T-C
Joint Max Group AF 0.39689034 (EAS)
Genomes Max Group AF 0.36466338 (EAS)
Exomes Max Group AF 0.39958347 (EAS)
dbSNP:
2272996
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.132694132T>C , CM000668.2:g.132694132T>C GRCh38
NC_000006.11:g.133015271T>C , CM000668.1:g.133015271T>C GRCh37
NC_000006.10:g.133056964T>C NCBI36
NG_012147.1:g.24924A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367928.5:c.392A>G MANE Select ENSP00000356905.4:p.Asn131Ser
ENST00000367928.4:c.392A>G ENSP00000356905.4:p.Asn131Ser
NM_004666.2:c.392A>G NP_004657.2:p.Asn131Ser
NM_004666.3:c.392A>G MANE Select NP_004657.2:p.Asn131Ser
Search 100 bp 5'
Search 100 bp 3'