Canonical Allele Identifier: CA7181063

Gene: NIN

Linked Data

• ClinVar Variation Id: 435996
• ClinVar RCV Id: RCV000503830 ; RCV002527270 ; RCV003960174
• dbSNP Id: rs141405524
• ExAC: 14:51196323 C / T
• gnomAD v2: 14-51196323-C-T
• gnomAD v3: 14-50729605-C-T
• gnomAD v4: 14-50729605-C-T
• MyVariant Identifiers: chr14:g.51196323C>T (hg19) ; chr14:g.50729605C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50729605C>T , CM000676.2:g.50729605C>T	GRCh38
NC_000014.8:g.51196323C>T , CM000676.1:g.51196323C>T	GRCh37
NC_000014.7:g.50266073C>T	NCBI36
NG_032968.1:g.106517G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485005.2:c.*87G>A	ENSP00000431485.2:n.*87G>A
ENST00000706703.1:n.524G>A
ENST00000706704.1:n.2238G>A
ENST00000706705.1:c.*1310G>A	ENSP00000516508.1:n.*1310G>A
ENST00000706706.1:c.*87G>A	ENSP00000516509.1:n.*87G>A
ENST00000706707.1:n.4339G>A
ENST00000706708.1:n.3348G>A
ENST00000453196.6:c.5996G>A	ENSP00000412391.1:p.Arg1999His
ENST00000530997.7:c.5996G>A MANE Select	ENSP00000436092.2:p.Arg1999His
ENST00000673657.1:c.*2722G>A	ENSP00000501199.1:n.*2722G>A
ENST00000674030.1:c.*2185G>A	ENSP00000501260.1:n.*2185G>A
ENST00000245441.9:c.5996G>A	ENSP00000245441.5:p.Arg1999His
ENST00000324330.13:c.3857G>A	ENSP00000324210.10:p.Arg1286His
ENST00000382041.7:c.5996G>A	ENSP00000371472.3:p.Arg1999His
ENST00000382043.8:c.3857G>A	ENSP00000371474.4:p.Arg1286His
ENST00000389869.7:c.4467G>A
ENST00000453196.5:c.5996G>A	ENSP00000412391.1:p.Arg1999His
ENST00000476352.5:c.*87G>A	ENSP00000432924.1:n.*87G>A
ENST00000485005.1:c.510G>A	ENSP00000431485.1:n.510G>A
ENST00000530853.5:c.4467G>A
ENST00000530997.6:c.5996G>A	ENSP00000436092.2:p.Arg1999His
NM_016350.4:c.3857G>A	NP_057434.4:p.Arg1286His
NM_020921.3:c.5996G>A	NP_065972.3:p.Arg1999His
NM_182944.2:c.5996G>A	NP_891989.2:p.Arg1999His
NM_182946.1:c.5996G>A	NP_891991.1:p.Arg1999His
XM_005267735.3:c.3857G>A	XP_005267792.1:p.Arg1286His
XM_006720160.2:c.*87G>A	XP_006720223.2:n.*87G>A
XM_011536817.1:c.6086G>A	XP_011535119.1:p.Arg2029His
XM_011536818.1:c.5996G>A	XP_011535120.1:p.Arg1999His
XM_011536819.1:c.6086G>A	XP_011535121.1:p.Arg2029His
XM_011536820.1:c.*87G>A	XP_011535122.1:n.*87G>A
XM_011536821.1:c.5330G>A	XP_011535123.1:p.Arg1777His
XM_011536822.1:c.3947G>A	XP_011535124.1:p.Arg1316His
XM_011536823.1:c.6014G>A	XP_011535125.1:p.Arg2005His
XM_011536824.1:c.*87G>A	XP_011535126.1:n.*87G>A
XM_011536819.3:c.6086G>A	XP_011535121.1:p.Arg2029His
XM_011536822.2:c.3947G>A	XP_011535124.1:p.Arg1316His
XM_011536823.2:c.6014G>A	XP_011535125.1:p.Arg2005His
XM_024449622.1:c.6086G>A	XP_024305390.1:p.Arg2029His
XR_001750344.2:n.6345G>A
XR_001750345.2:n.6345G>A
XR_001750346.2:n.6267G>A
XR_001750347.2:n.4200G>A
XR_001750348.2:n.4200G>A
XR_001750349.2:n.4128G>A
XR_001750350.2:n.4128G>A
NM_016350.5:c.3857G>A	NP_057434.4:p.Arg1286His
NM_020921.4:c.5996G>A MANE Select	NP_065972.4:p.Arg1999His
NM_182944.3:c.5996G>A	NP_891989.3:p.Arg1999His
NM_182946.2:c.5996G>A	NP_891991.2:p.Arg1999His