Canonical Allele Identifier: CA1266876873
Gene: SFTPB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85663346C= , CM000664.2:g.85663346C= GRCh38
NC_000002.11:g.85890469C= , CM000664.1:g.85890469C= GRCh37
NC_000002.10:g.85743980C= NCBI36
NG_016967.1:g.10396G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000409383.6:c.1002G= ENSP00000386346.2:p.Lys334=
ENST00000519937.7:c.1002G= MANE Select ENSP00000428719.2:p.Lys334=
ENST00000393822.7:c.1002G= ENSP00000377409.4:p.Lys334=
ENST00000409383.5:c.1038G= ENSP00000386346.1:p.Lys346=
ENST00000428225.5:c.979G=
ENST00000491167.1:n.202G=
ENST00000494165.1:c.133G=
ENST00000519937.6:c.1002G= ENSP00000428719.2:p.Lys334=
NM_000542.3:c.1038G= NP_000533.3:p.Lys346=
NM_198843.2:c.1038G= NP_942140.2:p.Lys346=
XM_005264487.2:c.1038G= XP_005264544.1:p.Lys346=
XM_005264488.2:c.990G= XP_005264545.2:p.Lys330=
XM_005264490.3:c.1002G= XP_005264547.2:p.Lys334=
XM_005264488.4:c.990G= XP_005264545.2:p.Lys330=
XM_005264490.4:c.1002G= XP_005264547.2:p.Lys334=
NM_000542.4:c.1002G= NP_000533.4:p.Lys334=
NM_001367281.1:c.1002G= NP_001354210.1:p.Lys334=
NM_198843.3:c.1002G= NP_942140.3:p.Lys334=
NM_000542.5:c.1002G= MANE Select NP_000533.4:p.Lys334=