Canonical Allele Identifier: CA2580614314

Gene: SFTPC

Linked Data

• ClinVar Variation Id: 1744270
• ClinVar RCV Id: RCV002342683

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22163941_22163942del , CM000670.2:g.22163941_22163942del	GRCh38
NC_000008.10:g.22021454_22021455del , CM000670.1:g.22021454_22021455del	GRCh37
NC_000008.9:g.22077399_22077400del	NCBI36
NG_016968.1:g.7271_7272del
NG_029659.1:g.3802_3803del

Transcript Alleles

HGVS	Amino-acid change
ENST00000679463.1:c.476_477del MANE Select	ENSP00000505152.1:p.Glu159GlyfsTer?
ENST00000318561.7:c.494_495del	ENSP00000316152.3:p.Glu165GlyfsTer?
ENST00000437090.6:c.*121_*122del	ENSP00000407931.2:n.*121_*122del
ENST00000520605.5:c.277-325_277-324del	ENSP00000430266.1:n.277-325_277-324del
ENST00000521315.5:c.476_477del	ENSP00000430410.1:p.Glu159GlyfsTer?
ENST00000522109.5:c.*377_*378del	ENSP00000429496.1:n.*377_*378del
ENST00000523296.1:c.317_318del	ENSP00000429619.1:p.Glu106GlyfsTer?
ENST00000524255.5:c.335_336del	ENSP00000429552.1:p.Glu112GlyfsTer?
NM_001172357.1:c.476_477del	NP_001165828.1:p.Glu159GlyfsTer?
NM_001172410.1:c.494_495del	NP_001165881.1:p.Glu165GlyfsTer?
NM_003018.3:c.494_495del	NP_003009.2:p.Glu165GlyfsTer?
XM_006716379.2:c.476_477del	XP_006716442.1:p.Glu159GlyfsTer?
XM_006716380.2:c.476_477del	XP_006716443.1:p.Glu159GlyfsTer?
XM_011544612.1:c.335_336del	XP_011542914.1:p.Glu112GlyfsTer?
XM_011544613.1:c.335_336del	XP_011542915.1:p.Glu112GlyfsTer?
NM_001317778.1:c.476_477del	NP_001304707.1:p.Glu159GlyfsTer?
NM_001317779.1:c.335_336del	NP_001304708.1:p.Glu112GlyfsTer?
NM_001317780.1:c.476_477del	NP_001304709.1:p.Glu159GlyfsTer?
XM_011544613.3:c.335_336del	XP_011542915.1:p.Glu112GlyfsTer?
NM_001172357.2:c.476_477del	NP_001165828.1:p.Glu159GlyfsTer?
NM_001172410.2:c.494_495del	NP_001165881.1:p.Glu165GlyfsTer?
NM_001317778.2:c.476_477del MANE Select	NP_001304707.1:p.Glu159GlyfsTer?
NM_001317779.2:c.335_336del	NP_001304708.1:p.Glu112GlyfsTer?
NM_001317780.2:c.476_477del	NP_001304709.1:p.Glu159GlyfsTer?
NM_003018.4:c.494_495del	NP_003009.2:p.Glu165GlyfsTer?
NM_001385653.1:c.494_495del	NP_001372582.1:p.Glu165GlyfsTer?
NM_001385654.1:c.494_495del	NP_001372583.1:p.Glu165GlyfsTer?
NM_001385655.1:c.494_495del	NP_001372584.1:p.Glu165GlyfsTer?
NM_001385656.1:c.476_477del	NP_001372585.1:p.Glu159GlyfsTer?
NM_001385657.1:c.476_477del	NP_001372586.1:p.Glu159GlyfsTer?
NM_001385658.1:c.476_477del	NP_001372587.1:p.Glu159GlyfsTer?
NM_001385659.1:c.476_477del	NP_001372588.1:p.Glu159GlyfsTer?
NM_001385660.1:c.335_336del	NP_001372589.1:p.Glu112GlyfsTer?