Canonical Allele Identifier: CA370538169
Gene: SFTPC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22163882G>T , CM000670.2:g.22163882G>T GRCh38
NC_000008.10:g.22021395G>T , CM000670.1:g.22021395G>T GRCh37
NC_000008.9:g.22077340G>T NCBI36
NG_016968.1:g.7212G>T
NG_029659.1:g.3743G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000679463.1:c.436-19G>T MANE Select ENSP00000505152.1:n.436-19G>T
ENST00000318561.7:c.436-1G>T ENSP00000316152.3:n.436-1G>T
ENST00000437090.6:c.*62G>T ENSP00000407931.2:n.*62G>T
ENST00000520605.5:c.276+336G>T ENSP00000430266.1:n.276+336G>T
ENST00000521315.5:c.436-19G>T ENSP00000430410.1:n.436-19G>T
ENST00000522109.5:c.*318G>T ENSP00000429496.1:n.*318G>T
ENST00000523296.1:c.277-19G>T ENSP00000429619.1:n.277-19G>T
ENST00000524255.5:c.277-1G>T ENSP00000429552.1:n.277-1G>T
NM_001172357.1:c.436-19G>T NP_001165828.1:n.436-19G>T
NM_001172410.1:c.436-1G>T NP_001165881.1:n.436-1G>T
NM_003018.3:c.436-1G>T NP_003009.2:n.436-1G>T
XM_006716379.2:c.436-19G>T XP_006716442.1:n.436-19G>T
XM_006716380.2:c.436-19G>T XP_006716443.1:n.436-19G>T
XM_011544612.1:c.277-1G>T XP_011542914.1:n.277-1G>T
XM_011544613.1:c.277-1G>T XP_011542915.1:n.277-1G>T
NM_001317778.1:c.436-19G>T NP_001304707.1:n.436-19G>T
NM_001317779.1:c.277-1G>T NP_001304708.1:n.277-1G>T
NM_001317780.1:c.436-19G>T NP_001304709.1:n.436-19G>T
XM_011544613.3:c.277-1G>T XP_011542915.1:n.277-1G>T
NM_001172357.2:c.436-19G>T NP_001165828.1:n.436-19G>T
NM_001172410.2:c.436-1G>T NP_001165881.1:n.436-1G>T
NM_001317778.2:c.436-19G>T MANE Select NP_001304707.1:n.436-19G>T
NM_001317779.2:c.277-1G>T NP_001304708.1:n.277-1G>T
NM_001317780.2:c.436-19G>T NP_001304709.1:n.436-19G>T
NM_003018.4:c.436-1G>T NP_003009.2:n.436-1G>T
NM_001385653.1:c.436-1G>T NP_001372582.1:n.436-1G>T
NM_001385654.1:c.436-1G>T NP_001372583.1:n.436-1G>T
NM_001385655.1:c.436-1G>T NP_001372584.1:n.436-1G>T
NM_001385656.1:c.436-19G>T NP_001372585.1:n.436-19G>T
NM_001385657.1:c.436-19G>T NP_001372586.1:n.436-19G>T
NM_001385658.1:c.436-19G>T NP_001372587.1:n.436-19G>T
NM_001385659.1:c.436-19G>T NP_001372588.1:n.436-19G>T
NM_001385660.1:c.277-1G>T NP_001372589.1:n.277-1G>T