Canonical Allele Identifier: CA370538356

Gene: SFTPC

Linked Data

• dbSNP Id: rs1474791847
• gnomAD v2: 8-22021478-C-G
• gnomAD v4: 8-22163965-C-G
• MyVariant Identifiers: chr8:g.22021478C>G (hg19) ; chr8:g.22163965C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22163965C>G , CM000670.2:g.22163965C>G	GRCh38
NC_000008.10:g.22021478C>G , CM000670.1:g.22021478C>G	GRCh37
NC_000008.9:g.22077423C>G	NCBI36
NG_016968.1:g.7295C>G
NG_029659.1:g.3826C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679463.1:c.500C>G MANE Select	ENSP00000505152.1:p.Pro167Arg
ENST00000318561.7:c.518C>G	ENSP00000316152.3:p.Pro173Arg
ENST00000437090.6:c.*145C>G	ENSP00000407931.2:n.*145C>G
ENST00000520605.5:c.277-301C>G	ENSP00000430266.1:n.277-301C>G
ENST00000521315.5:c.500C>G	ENSP00000430410.1:p.Pro167Arg
ENST00000522109.5:c.*401C>G	ENSP00000429496.1:n.*401C>G
ENST00000523296.1:c.341C>G	ENSP00000429619.1:p.Pro114Arg
ENST00000524255.5:c.359C>G	ENSP00000429552.1:p.Pro120Arg
NM_001172357.1:c.500C>G	NP_001165828.1:p.Pro167Arg
NM_001172410.1:c.518C>G	NP_001165881.1:p.Pro173Arg
NM_003018.3:c.518C>G	NP_003009.2:p.Pro173Arg
XM_006716379.2:c.500C>G	XP_006716442.1:p.Pro167Arg
XM_006716380.2:c.500C>G	XP_006716443.1:p.Pro167Arg
XM_011544612.1:c.359C>G	XP_011542914.1:p.Pro120Arg
XM_011544613.1:c.359C>G	XP_011542915.1:p.Pro120Arg
NM_001317778.1:c.500C>G	NP_001304707.1:p.Pro167Arg
NM_001317779.1:c.359C>G	NP_001304708.1:p.Pro120Arg
NM_001317780.1:c.500C>G	NP_001304709.1:p.Pro167Arg
XM_011544613.3:c.359C>G	XP_011542915.1:p.Pro120Arg
NM_001172357.2:c.500C>G	NP_001165828.1:p.Pro167Arg
NM_001172410.2:c.518C>G	NP_001165881.1:p.Pro173Arg
NM_001317778.2:c.500C>G MANE Select	NP_001304707.1:p.Pro167Arg
NM_001317779.2:c.359C>G	NP_001304708.1:p.Pro120Arg
NM_001317780.2:c.500C>G	NP_001304709.1:p.Pro167Arg
NM_003018.4:c.518C>G	NP_003009.2:p.Pro173Arg
NM_001385653.1:c.518C>G	NP_001372582.1:p.Pro173Arg
NM_001385654.1:c.518C>G	NP_001372583.1:p.Pro173Arg
NM_001385655.1:c.518C>G	NP_001372584.1:p.Pro173Arg
NM_001385656.1:c.500C>G	NP_001372585.1:p.Pro167Arg
NM_001385657.1:c.500C>G	NP_001372586.1:p.Pro167Arg
NM_001385658.1:c.500C>G	NP_001372587.1:p.Pro167Arg
NM_001385659.1:c.500C>G	NP_001372588.1:p.Pro167Arg
NM_001385660.1:c.359C>G	NP_001372589.1:p.Pro120Arg