Canonical Allele Identifier: CA210538

Gene: SFTPC

Linked Data

• ClinVar Variation Id: 13209
• ClinVar RCV Id: RCV000014096 ; RCV000261074 ; RCV002054436 ; RCV002336082 ; RCV003904835
• dbSNP Id: rs34957318
• ExAC: 8:22021460 G / A
• gnomAD v2: 8-22021460-G-A
• gnomAD v3: 8-22163947-G-A
• gnomAD v4: 8-22163947-G-A
• MyVariant Identifiers: chr8:g.22021460G>A (hg19) ; chr8:g.22163947G>A (hg38)
• PubMed: PMID:15039969

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22163947G>A , CM000670.2:g.22163947G>A	GRCh38
NC_000008.10:g.22021460G>A , CM000670.1:g.22021460G>A	GRCh37
NC_000008.9:g.22077405G>A	NCBI36
NG_016968.1:g.7277G>A
NG_029659.1:g.3808G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679463.1:c.482G>A MANE Select	ENSP00000505152.1:p.Arg161Gln
ENST00000318561.7:c.500G>A	ENSP00000316152.3:p.Arg167Gln
ENST00000437090.6:c.*127G>A	ENSP00000407931.2:n.*127G>A
ENST00000520605.5:c.277-319G>A	ENSP00000430266.1:n.277-319G>A
ENST00000521315.5:c.482G>A	ENSP00000430410.1:p.Arg161Gln
ENST00000522109.5:c.*383G>A	ENSP00000429496.1:n.*383G>A
ENST00000523296.1:c.323G>A	ENSP00000429619.1:p.Arg108Gln
ENST00000524255.5:c.341G>A	ENSP00000429552.1:p.Arg114Gln
NM_001172357.1:c.482G>A	NP_001165828.1:p.Arg161Gln
NM_001172410.1:c.500G>A	NP_001165881.1:p.Arg167Gln
NM_003018.3:c.500G>A	NP_003009.2:p.Arg167Gln
XM_006716379.2:c.482G>A	XP_006716442.1:p.Arg161Gln
XM_006716380.2:c.482G>A	XP_006716443.1:p.Arg161Gln
XM_011544612.1:c.341G>A	XP_011542914.1:p.Arg114Gln
XM_011544613.1:c.341G>A	XP_011542915.1:p.Arg114Gln
NM_001317778.1:c.482G>A	NP_001304707.1:p.Arg161Gln
NM_001317779.1:c.341G>A	NP_001304708.1:p.Arg114Gln
NM_001317780.1:c.482G>A	NP_001304709.1:p.Arg161Gln
XM_011544613.3:c.341G>A	XP_011542915.1:p.Arg114Gln
NM_001172357.2:c.482G>A	NP_001165828.1:p.Arg161Gln
NM_001172410.2:c.500G>A	NP_001165881.1:p.Arg167Gln
NM_001317778.2:c.482G>A MANE Select	NP_001304707.1:p.Arg161Gln
NM_001317779.2:c.341G>A	NP_001304708.1:p.Arg114Gln
NM_001317780.2:c.482G>A	NP_001304709.1:p.Arg161Gln
NM_003018.4:c.500G>A	NP_003009.2:p.Arg167Gln
NM_001385653.1:c.500G>A	NP_001372582.1:p.Arg167Gln
NM_001385654.1:c.500G>A	NP_001372583.1:p.Arg167Gln
NM_001385655.1:c.500G>A	NP_001372584.1:p.Arg167Gln
NM_001385656.1:c.482G>A	NP_001372585.1:p.Arg161Gln
NM_001385657.1:c.482G>A	NP_001372586.1:p.Arg161Gln
NM_001385658.1:c.482G>A	NP_001372587.1:p.Arg161Gln
NM_001385659.1:c.482G>A	NP_001372588.1:p.Arg161Gln
NM_001385660.1:c.341G>A	NP_001372589.1:p.Arg114Gln