Canonical Allele Identifier: CA10588299

Gene: NFIA

Linked Data

• ClinVar Variation Id: 265253
• ClinVar RCV Id: RCV000254980 ; RCV002518754 ; RCV003152700
• dbSNP Id: rs886039429
• COSMIC: COSM3805669 ; COSM3805670 ; COSM3805671
• MyVariant Identifiers: chr1:g.61554154C>T (hg19) ; chr1:g.61088482C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.61088482C>T , CM000663.2:g.61088482C>T	GRCh38
NC_000001.10:g.61554154C>T , CM000663.1:g.61554154C>T	GRCh37
NC_000001.9:g.61326742C>T	NCBI36
NG_011787.1:g.16209C>T
NG_011787.2:g.16209C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482020.2:c.361C>T	ENSP00000474806.2:p.Arg121Cys
ENST00000699964.1:c.337C>T	ENSP00000514720.1:p.Arg113Cys
ENST00000699965.1:c.361C>T	ENSP00000514721.1:p.Arg121Cys
ENST00000699966.1:c.361C>T	ENSP00000514722.1:p.Arg121Cys
ENST00000699967.1:c.361C>T	ENSP00000514723.1:p.Arg121Cys
ENST00000699986.1:c.361C>T	ENSP00000514739.1:p.Arg121Cys
ENST00000699987.1:c.361C>T	ENSP00000514740.1:p.Arg121Cys
ENST00000699993.1:c.361C>T	ENSP00000514743.1:p.Arg121Cys
ENST00000403491.8:c.361C>T MANE Select	ENSP00000384523.3:p.Arg121Cys
ENST00000603233.2:n.334C>T
ENST00000662015.1:c.361C>T	ENSP00000499312.1:p.Arg121Cys
ENST00000664149.1:c.361C>T	ENSP00000499651.1:p.Arg121Cys
ENST00000664495.1:c.*453C>T	ENSP00000499306.1:n.*453C>T
ENST00000670151.1:c.361C>T	ENSP00000499729.1:p.Arg121Cys
ENST00000371184.6:c.361C>T	ENSP00000360226.1:p.Arg121Cys
ENST00000371185.6:c.361C>T	ENSP00000360227.1:p.Arg121Cys
ENST00000371187.7:c.361C>T	ENSP00000360229.3:p.Arg121Cys
ENST00000371189.8:c.496C>T	ENSP00000360231.3:p.Arg166Cys
ENST00000371191.5:c.430C>T	ENSP00000360233.1:p.Arg144Cys
ENST00000403491.7:c.361C>T	ENSP00000384523.3:p.Arg121Cys
ENST00000407417.7:c.337C>T	ENSP00000384680.2:p.Arg113Cys
ENST00000476646.5:c.220C>T	ENSP00000474461.1:p.Arg74Cys
ENST00000479364.1:n.149+6567C>T
ENST00000485903.6:c.361C>T	ENSP00000419785.2:p.Arg121Cys
ENST00000496712.1:c.71C>T
NM_001134673.3:c.361C>T	NP_001128145.1:p.Arg121Cys
NM_001145511.1:c.337C>T	NP_001138983.1:p.Arg113Cys
NM_001145512.1:c.496C>T	NP_001138984.1:p.Arg166Cys
NM_005595.4:c.361C>T	NP_005586.1:p.Arg121Cys
XM_011541512.1:c.361C>T	XP_011539814.1:p.Arg121Cys
XM_011541513.1:c.361C>T	XP_011539815.1:p.Arg121Cys
XM_011541514.1:c.337C>T	XP_011539816.1:p.Arg113Cys
XM_011541515.1:c.361C>T	XP_011539817.1:p.Arg121Cys
XM_011541512.3:c.361C>T	XP_011539814.1:p.Arg121Cys
XM_011541514.3:c.337C>T	XP_011539816.1:p.Arg113Cys
XM_011541515.3:c.361C>T	XP_011539817.1:p.Arg121Cys
XM_017001362.2:c.337C>T	XP_016856851.1:p.Arg113Cys
NM_001134673.4:c.361C>T MANE Select	NP_001128145.1:p.Arg121Cys
NM_001145511.2:c.337C>T	NP_001138983.1:p.Arg113Cys
NM_001145512.2:c.496C>T	NP_001138984.1:p.Arg166Cys
NM_005595.5:c.361C>T	NP_005586.1:p.Arg121Cys