Canonical Allele Identifier: CA370538212

Gene: SFTPC

Linked Data

• ClinVar Variation Id: 1740774
• ClinVar RCV Id: RCV002328425
• MyVariant Identifiers: chr8:g.22021405T>G (hg19) ; chr8:g.22163892T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22163892T>G , CM000670.2:g.22163892T>G	GRCh38
NC_000008.10:g.22021405T>G , CM000670.1:g.22021405T>G	GRCh37
NC_000008.9:g.22077350T>G	NCBI36
NG_016968.1:g.7222T>G
NG_029659.1:g.3753T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679463.1:c.436-9T>G MANE Select	ENSP00000505152.1:n.436-9T>G
ENST00000318561.7:c.445T>G	ENSP00000316152.3:p.Ser149Ala
ENST00000437090.6:c.*72T>G	ENSP00000407931.2:n.*72T>G
ENST00000520605.5:c.276+346T>G	ENSP00000430266.1:n.276+346T>G
ENST00000521315.5:c.436-9T>G	ENSP00000430410.1:n.436-9T>G
ENST00000522109.5:c.*328T>G	ENSP00000429496.1:n.*328T>G
ENST00000523296.1:c.277-9T>G	ENSP00000429619.1:n.277-9T>G
ENST00000524255.5:c.286T>G	ENSP00000429552.1:p.Ser96Ala
NM_001172357.1:c.436-9T>G	NP_001165828.1:n.436-9T>G
NM_001172410.1:c.445T>G	NP_001165881.1:p.Ser149Ala
NM_003018.3:c.445T>G	NP_003009.2:p.Ser149Ala
XM_006716379.2:c.436-9T>G	XP_006716442.1:n.436-9T>G
XM_006716380.2:c.436-9T>G	XP_006716443.1:n.436-9T>G
XM_011544612.1:c.286T>G	XP_011542914.1:p.Ser96Ala
XM_011544613.1:c.286T>G	XP_011542915.1:p.Ser96Ala
NM_001317778.1:c.436-9T>G	NP_001304707.1:n.436-9T>G
NM_001317779.1:c.286T>G	NP_001304708.1:p.Ser96Ala
NM_001317780.1:c.436-9T>G	NP_001304709.1:n.436-9T>G
XM_011544613.3:c.286T>G	XP_011542915.1:p.Ser96Ala
NM_001172357.2:c.436-9T>G	NP_001165828.1:n.436-9T>G
NM_001172410.2:c.445T>G	NP_001165881.1:p.Ser149Ala
NM_001317778.2:c.436-9T>G MANE Select	NP_001304707.1:n.436-9T>G
NM_001317779.2:c.286T>G	NP_001304708.1:p.Ser96Ala
NM_001317780.2:c.436-9T>G	NP_001304709.1:n.436-9T>G
NM_003018.4:c.445T>G	NP_003009.2:p.Ser149Ala
NM_001385653.1:c.445T>G	NP_001372582.1:p.Ser149Ala
NM_001385654.1:c.445T>G	NP_001372583.1:p.Ser149Ala
NM_001385655.1:c.445T>G	NP_001372584.1:p.Ser149Ala
NM_001385656.1:c.436-9T>G	NP_001372585.1:n.436-9T>G
NM_001385657.1:c.436-9T>G	NP_001372586.1:n.436-9T>G
NM_001385658.1:c.436-9T>G	NP_001372587.1:n.436-9T>G
NM_001385659.1:c.436-9T>G	NP_001372588.1:n.436-9T>G
NM_001385660.1:c.286T>G	NP_001372589.1:p.Ser96Ala