Canonical Allele Identifier: CA1266876866
Gene: SFTPB HGNC NCBI

Linked Data

dbSNP Id: rs1677401622

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85663320T>C , CM000664.2:g.85663320T>C GRCh38
NC_000002.11:g.85890443T>C , CM000664.1:g.85890443T>C GRCh37
NC_000002.10:g.85743954T>C NCBI36
NG_016967.1:g.10422A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409383.6:c.1002+26A>G ENSP00000386346.2:n.1002+26A>G
ENST00000519937.7:c.1002+26A>G MANE Select ENSP00000428719.2:n.1002+26A>G
ENST00000393822.7:c.1002+26A>G ENSP00000377409.4:n.1002+26A>G
ENST00000409383.5:c.1038+26A>G ENSP00000386346.1:n.1038+26A>G
ENST00000428225.5:c.979+26A>G
ENST00000491167.1:n.202+26A>G
ENST00000494165.1:c.133+26A>G
ENST00000519937.6:c.1002+26A>G ENSP00000428719.2:n.1002+26A>G
NM_000542.3:c.1038+26A>G NP_000533.3:n.1038+26A>G
NM_198843.2:c.1038+26A>G NP_942140.2:n.1038+26A>G
XM_005264487.2:c.1038+26A>G XP_005264544.1:n.1038+26A>G
XM_005264488.2:c.990+26A>G XP_005264545.2:n.990+26A>G
XM_005264490.3:c.1002+26A>G XP_005264547.2:n.1002+26A>G
XM_005264488.4:c.990+26A>G XP_005264545.2:n.990+26A>G
XM_005264490.4:c.1002+26A>G XP_005264547.2:n.1002+26A>G
NM_000542.4:c.1002+26A>G NP_000533.4:n.1002+26A>G
NM_001367281.1:c.1002+26A>G NP_001354210.1:n.1002+26A>G
NM_198843.3:c.1002+26A>G NP_942140.3:n.1002+26A>G
NM_000542.5:c.1002+26A>G MANE Select NP_000533.4:n.1002+26A>G