Canonical Allele Identifier: CA2580078067

Gene: SFTPC

Linked Data

• ClinVar Variation Id: 1744578
• ClinVar RCV Id: RCV002342936

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22163945dup , CM000670.2:g.22163945dup	GRCh38
NC_000008.10:g.22021458dup , CM000670.1:g.22021458dup	GRCh37
NC_000008.9:g.22077403dup	NCBI36
NG_016968.1:g.7275dup
NG_029659.1:g.3806dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679463.1:c.480dup MANE Select	ENSP00000505152.1:p.Arg161AlafsTer?
ENST00000318561.7:c.498dup	ENSP00000316152.3:p.Arg167AlafsTer?
ENST00000437090.6:c.*125dup	ENSP00000407931.2:n.*125dup
ENST00000520605.5:c.277-321dup	ENSP00000430266.1:n.277-321dup
ENST00000521315.5:c.480dup	ENSP00000430410.1:p.Arg161AlafsTer?
ENST00000522109.5:c.*381dup	ENSP00000429496.1:n.*381dup
ENST00000523296.1:c.321dup	ENSP00000429619.1:p.Arg108AlafsTer?
ENST00000524255.5:c.339dup	ENSP00000429552.1:p.Arg114AlafsTer?
NM_001172357.1:c.480dup	NP_001165828.1:p.Arg161AlafsTer?
NM_001172410.1:c.498dup	NP_001165881.1:p.Arg167AlafsTer?
NM_003018.3:c.498dup	NP_003009.2:p.Arg167AlafsTer?
XM_006716379.2:c.480dup	XP_006716442.1:p.Arg161AlafsTer?
XM_006716380.2:c.480dup	XP_006716443.1:p.Arg161AlafsTer?
XM_011544612.1:c.339dup	XP_011542914.1:p.Arg114AlafsTer?
XM_011544613.1:c.339dup	XP_011542915.1:p.Arg114AlafsTer?
NM_001317778.1:c.480dup	NP_001304707.1:p.Arg161AlafsTer?
NM_001317779.1:c.339dup	NP_001304708.1:p.Arg114AlafsTer?
NM_001317780.1:c.480dup	NP_001304709.1:p.Arg161AlafsTer?
XM_011544613.3:c.339dup	XP_011542915.1:p.Arg114AlafsTer?
NM_001172357.2:c.480dup	NP_001165828.1:p.Arg161AlafsTer?
NM_001172410.2:c.498dup	NP_001165881.1:p.Arg167AlafsTer?
NM_001317778.2:c.480dup MANE Select	NP_001304707.1:p.Arg161AlafsTer?
NM_001317779.2:c.339dup	NP_001304708.1:p.Arg114AlafsTer?
NM_001317780.2:c.480dup	NP_001304709.1:p.Arg161AlafsTer?
NM_003018.4:c.498dup	NP_003009.2:p.Arg167AlafsTer?
NM_001385653.1:c.498dup	NP_001372582.1:p.Arg167AlafsTer?
NM_001385654.1:c.498dup	NP_001372583.1:p.Arg167AlafsTer?
NM_001385655.1:c.498dup	NP_001372584.1:p.Arg167AlafsTer?
NM_001385656.1:c.480dup	NP_001372585.1:p.Arg161AlafsTer?
NM_001385657.1:c.480dup	NP_001372586.1:p.Arg161AlafsTer?
NM_001385658.1:c.480dup	NP_001372587.1:p.Arg161AlafsTer?
NM_001385659.1:c.480dup	NP_001372588.1:p.Arg161AlafsTer?
NM_001385660.1:c.339dup	NP_001372589.1:p.Arg114AlafsTer?