Canonical Allele Identifier: CA427080883
Gene: SFTPB HGNC NCBI

Linked Data

dbSNP Id: rs1436364553
gnomAD v2: 2-85890791-G-T
gnomAD v4: 2-85663668-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85663668G>T , CM000664.2:g.85663668G>T GRCh38
NC_000002.11:g.85890791G>T , CM000664.1:g.85890791G>T GRCh37
NC_000002.10:g.85744302G>T NCBI36
NG_016967.1:g.10074C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409383.6:c.852C>A ENSP00000386346.2:p.Gly284=
ENST00000519937.7:c.852C>A MANE Select ENSP00000428719.2:p.Gly284=
ENST00000393822.7:c.852C>A ENSP00000377409.4:p.Gly284=
ENST00000409383.5:c.888C>A ENSP00000386346.1:p.Gly296=
ENST00000428225.5:c.841C>A
ENST00000519937.6:c.852C>A ENSP00000428719.2:p.Gly284=
NM_000542.3:c.888C>A NP_000533.3:p.Gly296=
NM_198843.2:c.888C>A NP_942140.2:p.Gly296=
XM_005264487.2:c.888C>A XP_005264544.1:p.Gly296=
XM_005264488.2:c.852C>A XP_005264545.2:p.Gly284=
XM_005264490.3:c.852C>A XP_005264547.2:p.Gly284=
XM_005264488.4:c.852C>A XP_005264545.2:p.Gly284=
XM_005264490.4:c.852C>A XP_005264547.2:p.Gly284=
NM_000542.4:c.852C>A NP_000533.4:p.Gly284=
NM_001367281.1:c.852C>A NP_001354210.1:p.Gly284=
NM_198843.3:c.852C>A NP_942140.3:p.Gly284=
NM_000542.5:c.852C>A MANE Select NP_000533.4:p.Gly284=