Canonical Allele Identifier: CA6400040
Gene: NTF3 HGNC NCBI
COSMIC:
COSM3753389 (not active)
MyVariant.info:
GRCh38 chr12:g.5494466G>A
GRCh37 chr12:g.5603632G>A
gnomAD v2:
12:5603632 G / A
gnomAD v3:
12:5494466 G / A
gnomAD v4:
chr12-5494466-G-A
Joint Max Group AF 0.5410935 (MID)
Genomes Max Group AF 0.51755225 (AFR)
Exomes Max Group AF 0.54028977 (MID)
dbSNP:
6332
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5494466G>A , CM000674.2:g.5494466G>A GRCh38
NC_000012.11:g.5603632G>A , CM000674.1:g.5603632G>A GRCh37
NC_000012.10:g.5473893G>A NCBI36
NG_050629.1:g.67353G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000423158.4:c.291G>A MANE Select ENSP00000397297.2:p.Pro97=
ENST00000331010.7:c.252G>A ENSP00000328738.6:p.Pro84=
ENST00000423158.3:c.291G>A ENSP00000397297.2:p.Pro97=
ENST00000535299.5:n.232-12099G>A
ENST00000543548.1:n.481G>A
NM_001102654.1:c.291G>A NP_001096124.1:p.Pro97=
NM_002527.4:c.252G>A NP_002518.1:p.Pro84=
XM_011520963.1:c.252G>A XP_011519265.1:p.Pro84=
XM_011520963.2:c.252G>A XP_011519265.1:p.Pro84=
NM_001102654.2:c.291G>A MANE Select NP_001096124.1:p.Pro97=
NM_002527.5:c.252G>A NP_002518.1:p.Pro84=
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