Canonical Allele Identifier: CA347487241
Gene: SFTPB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85663416T>C , CM000664.2:g.85663416T>C GRCh38
NC_000002.11:g.85890539T>C , CM000664.1:g.85890539T>C GRCh37
NC_000002.10:g.85744050T>C NCBI36
NG_016967.1:g.10326A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409383.6:c.932A>G ENSP00000386346.2:p.Asn311Ser
ENST00000519937.7:c.932A>G MANE Select ENSP00000428719.2:p.Asn311Ser
ENST00000393822.7:c.932A>G ENSP00000377409.4:p.Asn311Ser
ENST00000409383.5:c.968A>G ENSP00000386346.1:p.Asn323Ser
ENST00000428225.5:c.909A>G
ENST00000491167.1:n.132A>G
ENST00000494165.1:c.63A>G
ENST00000519937.6:c.932A>G ENSP00000428719.2:p.Asn311Ser
NM_000542.3:c.968A>G NP_000533.3:p.Asn323Ser
NM_198843.2:c.968A>G NP_942140.2:p.Asn323Ser
XM_005264487.2:c.968A>G XP_005264544.1:p.Asn323Ser
XM_005264488.2:c.920A>G XP_005264545.2:p.Asn307Ser
XM_005264490.3:c.932A>G XP_005264547.2:p.Asn311Ser
XM_005264488.4:c.920A>G XP_005264545.2:p.Asn307Ser
XM_005264490.4:c.932A>G XP_005264547.2:p.Asn311Ser
NM_000542.4:c.932A>G NP_000533.4:p.Asn311Ser
NM_001367281.1:c.932A>G NP_001354210.1:p.Asn311Ser
NM_198843.3:c.932A>G NP_942140.3:p.Asn311Ser
NM_000542.5:c.932A>G MANE Select NP_000533.4:p.Asn311Ser