Canonical Allele Identifier: CA2659874550
Gene: SFTPB HGNC NCBI

Linked Data

gnomAD v4: 2-85663553-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85663553T>G , CM000664.2:g.85663553T>G GRCh38
NC_000002.11:g.85890676T>G , CM000664.1:g.85890676T>G GRCh37
NC_000002.10:g.85744187T>G NCBI36
NG_016967.1:g.10189A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409383.6:c.857-62A>C ENSP00000386346.2:n.857-62A>C
ENST00000519937.7:c.857-62A>C MANE Select ENSP00000428719.2:n.857-62A>C
ENST00000393822.7:c.857-62A>C ENSP00000377409.4:n.857-62A>C
ENST00000409383.5:c.893-62A>C ENSP00000386346.1:n.893-62A>C
ENST00000428225.5:c.846-74A>C
ENST00000519937.6:c.857-62A>C ENSP00000428719.2:n.857-62A>C
NM_000542.3:c.893-62A>C NP_000533.3:n.893-62A>C
NM_198843.2:c.893-62A>C NP_942140.2:n.893-62A>C
XM_005264487.2:c.893-62A>C XP_005264544.1:n.893-62A>C
XM_005264488.2:c.857-74A>C XP_005264545.2:n.857-74A>C
XM_005264490.3:c.857-62A>C XP_005264547.2:n.857-62A>C
XM_005264488.4:c.857-74A>C XP_005264545.2:n.857-74A>C
XM_005264490.4:c.857-62A>C XP_005264547.2:n.857-62A>C
NM_000542.4:c.857-62A>C NP_000533.4:n.857-62A>C
NM_001367281.1:c.857-62A>C NP_001354210.1:n.857-62A>C
NM_198843.3:c.857-62A>C NP_942140.3:n.857-62A>C
NM_000542.5:c.857-62A>C MANE Select NP_000533.4:n.857-62A>C