Canonical Allele Identifier: CA2659874558
Gene: SFTPB HGNC NCBI

Linked Data

gnomAD v4: 2-85663573-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85663573A>C , CM000664.2:g.85663573A>C GRCh38
NC_000002.11:g.85890696A>C , CM000664.1:g.85890696A>C GRCh37
NC_000002.10:g.85744207A>C NCBI36
NG_016967.1:g.10169T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409383.6:c.857-82T>G ENSP00000386346.2:n.857-82T>G
ENST00000519937.7:c.857-82T>G MANE Select ENSP00000428719.2:n.857-82T>G
ENST00000393822.7:c.857-82T>G ENSP00000377409.4:n.857-82T>G
ENST00000409383.5:c.893-82T>G ENSP00000386346.1:n.893-82T>G
ENST00000428225.5:c.845+91T>G
ENST00000519937.6:c.857-82T>G ENSP00000428719.2:n.857-82T>G
NM_000542.3:c.893-82T>G NP_000533.3:n.893-82T>G
NM_198843.2:c.893-82T>G NP_942140.2:n.893-82T>G
XM_005264487.2:c.893-82T>G XP_005264544.1:n.893-82T>G
XM_005264488.2:c.856+91T>G XP_005264545.2:n.856+91T>G
XM_005264490.3:c.857-82T>G XP_005264547.2:n.857-82T>G
XM_005264488.4:c.856+91T>G XP_005264545.2:n.856+91T>G
XM_005264490.4:c.857-82T>G XP_005264547.2:n.857-82T>G
NM_000542.4:c.857-82T>G NP_000533.4:n.857-82T>G
NM_001367281.1:c.857-82T>G NP_001354210.1:n.857-82T>G
NM_198843.3:c.857-82T>G NP_942140.3:n.857-82T>G
NM_000542.5:c.857-82T>G MANE Select NP_000533.4:n.857-82T>G