Canonical Allele Identifier: CA1266876917

Gene: SFTPB

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85663448G= , CM000664.2:g.85663448G=	GRCh38
NC_000002.11:g.85890571G= , CM000664.1:g.85890571G=	GRCh37
NC_000002.10:g.85744082G=	NCBI36
NG_016967.1:g.10294C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409383.6:c.900C=	ENSP00000386346.2:p.His300=
ENST00000519937.7:c.900C= MANE Select	ENSP00000428719.2:p.His300=
ENST00000393822.7:c.900C=	ENSP00000377409.4:p.His300=
ENST00000409383.5:c.936C=	ENSP00000386346.1:p.His312=
ENST00000428225.5:c.877C=
ENST00000491167.1:n.100C=
ENST00000494165.1:c.31C=
ENST00000519937.6:c.900C=	ENSP00000428719.2:p.His300=
NM_000542.3:c.936C=	NP_000533.3:p.His312=
NM_198843.2:c.936C=	NP_942140.2:p.His312=
XM_005264487.2:c.936C=	XP_005264544.1:p.His312=
XM_005264488.2:c.888C=	XP_005264545.2:p.His296=
XM_005264490.3:c.900C=	XP_005264547.2:p.His300=
XM_005264488.4:c.888C=	XP_005264545.2:p.His296=
XM_005264490.4:c.900C=	XP_005264547.2:p.His300=
NM_000542.4:c.900C=	NP_000533.4:p.His300=
NM_001367281.1:c.900C=	NP_001354210.1:p.His300=
NM_198843.3:c.900C=	NP_942140.3:p.His300=
NM_000542.5:c.900C= MANE Select	NP_000533.4:p.His300=