Canonical Allele Identifier: CA1266876923
Gene: SFTPB HGNC NCBI

Linked Data

dbSNP Id: rs1677409683

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85663457dup , CM000664.2:g.85663457dup GRCh38
NC_000002.11:g.85890580dup , CM000664.1:g.85890580dup GRCh37
NC_000002.10:g.85744091dup NCBI36
NG_016967.1:g.10285dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000409383.6:c.891dup ENSP00000386346.2:p.Glu298Ter
ENST00000519937.7:c.891dup MANE Select ENSP00000428719.2:p.Glu298Ter
ENST00000393822.7:c.891dup ENSP00000377409.4:p.Glu298Ter
ENST00000409383.5:c.927dup ENSP00000386346.1:p.Glu310Ter
ENST00000428225.5:c.868dup
ENST00000491167.1:n.91dup
ENST00000494165.1:c.22dup
ENST00000519937.6:c.891dup ENSP00000428719.2:p.Glu298Ter
NM_000542.3:c.927dup NP_000533.3:p.Glu310Ter
NM_198843.2:c.927dup NP_942140.2:p.Glu310Ter
XM_005264487.2:c.927dup XP_005264544.1:p.Glu310Ter
XM_005264488.2:c.879dup XP_005264545.2:p.Glu294Ter
XM_005264490.3:c.891dup XP_005264547.2:p.Glu298Ter
XM_005264488.4:c.879dup XP_005264545.2:p.Glu294Ter
XM_005264490.4:c.891dup XP_005264547.2:p.Glu298Ter
NM_000542.4:c.891dup NP_000533.4:p.Glu298Ter
NM_001367281.1:c.891dup NP_001354210.1:p.Glu298Ter
NM_198843.3:c.891dup NP_942140.3:p.Glu298Ter
NM_000542.5:c.891dup MANE Select NP_000533.4:p.Glu298Ter