Canonical Allele Identifier: CA370538428
Gene: SFTPC HGNC NCBI

Linked Data

dbSNP Id: rs1563225736

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22164003A>T , CM000670.2:g.22164003A>T GRCh38
NC_000008.10:g.22021516A>T , CM000670.1:g.22021516A>T GRCh37
NC_000008.9:g.22077461A>T NCBI36
NG_016968.1:g.7333A>T
NG_029659.1:g.3864A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000679463.1:c.538A>T MANE Select ENSP00000505152.1:p.Ser180Cys
ENST00000318561.7:c.556A>T ENSP00000316152.3:p.Ser186Cys
ENST00000437090.6:c.*183A>T ENSP00000407931.2:n.*183A>T
ENST00000520605.5:c.277-263A>T ENSP00000430266.1:n.277-263A>T
ENST00000521315.5:c.538A>T ENSP00000430410.1:p.Ser180Cys
ENST00000522109.5:c.*439A>T ENSP00000429496.1:n.*439A>T
ENST00000524255.5:c.397A>T ENSP00000429552.1:p.Ser133Cys
NM_001172357.1:c.538A>T NP_001165828.1:p.Ser180Cys
NM_001172410.1:c.556A>T NP_001165881.1:p.Ser186Cys
NM_003018.3:c.556A>T NP_003009.2:p.Ser186Cys
XM_006716379.2:c.538A>T XP_006716442.1:p.Ser180Cys
XM_006716380.2:c.538A>T XP_006716443.1:p.Ser180Cys
XM_011544612.1:c.397A>T XP_011542914.1:p.Ser133Cys
XM_011544613.1:c.397A>T XP_011542915.1:p.Ser133Cys
NM_001317778.1:c.538A>T NP_001304707.1:p.Ser180Cys
NM_001317779.1:c.397A>T NP_001304708.1:p.Ser133Cys
NM_001317780.1:c.538A>T NP_001304709.1:p.Ser180Cys
XM_011544613.3:c.397A>T XP_011542915.1:p.Ser133Cys
NM_001172357.2:c.538A>T NP_001165828.1:p.Ser180Cys
NM_001172410.2:c.556A>T NP_001165881.1:p.Ser186Cys
NM_001317778.2:c.538A>T MANE Select NP_001304707.1:p.Ser180Cys
NM_001317779.2:c.397A>T NP_001304708.1:p.Ser133Cys
NM_001317780.2:c.538A>T NP_001304709.1:p.Ser180Cys
NM_003018.4:c.556A>T NP_003009.2:p.Ser186Cys
NM_001385653.1:c.556A>T NP_001372582.1:p.Ser186Cys
NM_001385654.1:c.556A>T NP_001372583.1:p.Ser186Cys
NM_001385655.1:c.556A>T NP_001372584.1:p.Ser186Cys
NM_001385656.1:c.538A>T NP_001372585.1:p.Ser180Cys
NM_001385657.1:c.538A>T NP_001372586.1:p.Ser180Cys
NM_001385658.1:c.538A>T NP_001372587.1:p.Ser180Cys
NM_001385659.1:c.538A>T NP_001372588.1:p.Ser180Cys
NM_001385660.1:c.397A>T NP_001372589.1:p.Ser133Cys