Canonical Allele Identifier: CA1266874764
Gene: SFTPB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85658890T= , CM000664.2:g.85658890T= GRCh38
NC_000002.11:g.85886013T= , CM000664.1:g.85886013T= GRCh37
NC_000002.10:g.85739524T= NCBI36
NG_016967.1:g.14852A=

Transcript Alleles

HGVS Amino-acid Change
NM_000542.5:c.*812A= MANE Select NP_000533.4:n.*812A=
ENST00000519937.7:c.*812A= MANE Select ENSP00000428719.2:n.*812A=
NM_000542.3:c.*812A= NP_000533.3:n.*812A=
NM_000542.4:c.*812A= NP_000533.4:n.*812A=
NM_001367281.1:c.1003-35A= NP_001354210.1:n.1003-35A=
NM_198843.2:c.*20-35A= NP_942140.2:n.*20-35A=
NM_198843.3:c.*20-35A= NP_942140.3:n.*20-35A=
ENST00000393822.7:c.*812A= ENSP00000377409.4:n.*812A=
ENST00000409383.5:c.*20-35A= ENSP00000386346.1:n.*20-35A=
ENST00000409383.6:c.*20-35A= ENSP00000386346.2:n.*20-35A=
ENST00000428225.5:c.1143-35A=
ENST00000519937.6:c.*812A= ENSP00000428719.2:n.*812A=
XM_005264487.2:c.*856A= XP_005264544.1:n.*856A=
XM_005264488.2:c.*812A= XP_005264545.2:n.*812A=
XM_005264488.4:c.*812A= XP_005264545.2:n.*812A=