Canonical Allele Identifier: CA370538385
Gene: SFTPC HGNC NCBI

Linked Data

gnomAD v4: 8-22163980-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22163980C>G , CM000670.2:g.22163980C>G GRCh38
NC_000008.10:g.22021493C>G , CM000670.1:g.22021493C>G GRCh37
NC_000008.9:g.22077438C>G NCBI36
NG_016968.1:g.7310C>G
NG_029659.1:g.3841C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000679463.1:c.515C>G MANE Select ENSP00000505152.1:p.Pro172Arg
ENST00000318561.7:c.533C>G ENSP00000316152.3:p.Pro178Arg
ENST00000437090.6:c.*160C>G ENSP00000407931.2:n.*160C>G
ENST00000520605.5:c.277-286C>G ENSP00000430266.1:n.277-286C>G
ENST00000521315.5:c.515C>G ENSP00000430410.1:p.Pro172Arg
ENST00000522109.5:c.*416C>G ENSP00000429496.1:n.*416C>G
ENST00000523296.1:c.356C>G ENSP00000429619.1:p.Pro119Arg
ENST00000524255.5:c.374C>G ENSP00000429552.1:p.Pro125Arg
NM_001172357.1:c.515C>G NP_001165828.1:p.Pro172Arg
NM_001172410.1:c.533C>G NP_001165881.1:p.Pro178Arg
NM_003018.3:c.533C>G NP_003009.2:p.Pro178Arg
XM_006716379.2:c.515C>G XP_006716442.1:p.Pro172Arg
XM_006716380.2:c.515C>G XP_006716443.1:p.Pro172Arg
XM_011544612.1:c.374C>G XP_011542914.1:p.Pro125Arg
XM_011544613.1:c.374C>G XP_011542915.1:p.Pro125Arg
NM_001317778.1:c.515C>G NP_001304707.1:p.Pro172Arg
NM_001317779.1:c.374C>G NP_001304708.1:p.Pro125Arg
NM_001317780.1:c.515C>G NP_001304709.1:p.Pro172Arg
XM_011544613.3:c.374C>G XP_011542915.1:p.Pro125Arg
NM_001172357.2:c.515C>G NP_001165828.1:p.Pro172Arg
NM_001172410.2:c.533C>G NP_001165881.1:p.Pro178Arg
NM_001317778.2:c.515C>G MANE Select NP_001304707.1:p.Pro172Arg
NM_001317779.2:c.374C>G NP_001304708.1:p.Pro125Arg
NM_001317780.2:c.515C>G NP_001304709.1:p.Pro172Arg
NM_003018.4:c.533C>G NP_003009.2:p.Pro178Arg
NM_001385653.1:c.533C>G NP_001372582.1:p.Pro178Arg
NM_001385654.1:c.533C>G NP_001372583.1:p.Pro178Arg
NM_001385655.1:c.533C>G NP_001372584.1:p.Pro178Arg
NM_001385656.1:c.515C>G NP_001372585.1:p.Pro172Arg
NM_001385657.1:c.515C>G NP_001372586.1:p.Pro172Arg
NM_001385658.1:c.515C>G NP_001372587.1:p.Pro172Arg
NM_001385659.1:c.515C>G NP_001372588.1:p.Pro172Arg
NM_001385660.1:c.374C>G NP_001372589.1:p.Pro125Arg