Canonical Allele Identifier: CA13612272

Gene: NTF3

Linked Data

• dbSNP Id: rs4930767
• gnomAD v2: 12-5597381-T-C
• gnomAD v3: 12-5488215-T-C
• gnomAD v4: 12-5488215-T-C
• MyVariant Identifiers: chr12:g.5597381T>C (hg19) ; chr12:g.5488215T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5488215T>C , CM000674.2:g.5488215T>C	GRCh38
NC_000012.11:g.5597381T>C , CM000674.1:g.5597381T>C	GRCh37
NC_000012.10:g.5467642T>C	NCBI36
NG_050629.1:g.61102T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000423158.4:c.19-5979T>C MANE Select	ENSP00000397297.2:n.19-5979T>C
ENST00000423158.3:c.19-5979T>C	ENSP00000397297.2:n.19-5979T>C
ENST00000535299.5:n.232-18350T>C
ENST00000543548.1:n.209-5979T>C
NM_001102654.1:c.19-5979T>C	NP_001096124.1:n.19-5979T>C
XM_011520963.1:c.-21-5979T>C	XP_011519265.1:n.-21-5979T>C
XM_011520963.2:c.-21-5979T>C	XP_011519265.1:n.-21-5979T>C
NM_001102654.2:c.19-5979T>C MANE Select	NP_001096124.1:n.19-5979T>C