Canonical Allele Identifier: CA347487007
Gene: SFTPB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85663369C>A , CM000664.2:g.85663369C>A GRCh38
NC_000002.11:g.85890492C>A , CM000664.1:g.85890492C>A GRCh37
NC_000002.10:g.85744003C>A NCBI36
NG_016967.1:g.10373G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409383.6:c.979G>T ENSP00000386346.2:p.Gly327Cys
ENST00000519937.7:c.979G>T MANE Select ENSP00000428719.2:p.Gly327Cys
ENST00000393822.7:c.979G>T ENSP00000377409.4:p.Gly327Cys
ENST00000409383.5:c.1015G>T ENSP00000386346.1:p.Gly339Cys
ENST00000428225.5:c.956G>T
ENST00000491167.1:n.179G>T
ENST00000494165.1:c.110G>T
ENST00000519937.6:c.979G>T ENSP00000428719.2:p.Gly327Cys
NM_000542.3:c.1015G>T NP_000533.3:p.Gly339Cys
NM_198843.2:c.1015G>T NP_942140.2:p.Gly339Cys
XM_005264487.2:c.1015G>T XP_005264544.1:p.Gly339Cys
XM_005264488.2:c.967G>T XP_005264545.2:p.Gly323Cys
XM_005264490.3:c.979G>T XP_005264547.2:p.Gly327Cys
XM_005264488.4:c.967G>T XP_005264545.2:p.Gly323Cys
XM_005264490.4:c.979G>T XP_005264547.2:p.Gly327Cys
NM_000542.4:c.979G>T NP_000533.4:p.Gly327Cys
NM_001367281.1:c.979G>T NP_001354210.1:p.Gly327Cys
NM_198843.3:c.979G>T NP_942140.3:p.Gly327Cys
NM_000542.5:c.979G>T MANE Select NP_000533.4:p.Gly327Cys