Canonical Allele Identifier: CA6400041
Gene: NTF3 HGNC NCBI

Linked Data

dbSNP Id: rs6332
gnomAD v2: 12-5603632-G-T
gnomAD v3: 12-5494466-G-T
gnomAD v4: 12-5494466-G-T

Genomic Alleles

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

Transcript Alleles

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