Canonical Allele Identifier: CA51750416

Gene: SFTPB

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85662022G>A , CM000664.2:g.85662022G>A	GRCh38
NC_000002.11:g.85889145G>A , CM000664.1:g.85889145G>A	GRCh37
NC_000002.10:g.85742656G>A	NCBI36
NG_016967.1:g.11720C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000542.5:c.1083+7C>T MANE Select	NP_000533.4:n.1083+7C>T
ENST00000519937.7:c.1083+7C>T MANE Select	ENSP00000428719.2:n.1083+7C>T
NM_000542.3:c.1119+7C>T	NP_000533.3:n.1119+7C>T
NM_000542.4:c.1083+7C>T	NP_000533.4:n.1083+7C>T
NM_001367281.1:c.1002+1324C>T	NP_001354210.1:n.1002+1324C>T
NM_198843.2:c.1119+7C>T	NP_942140.2:n.1119+7C>T
NM_198843.3:c.1083+7C>T	NP_942140.3:n.1083+7C>T
ENST00000393822.7:c.1083+7C>T	ENSP00000377409.4:n.1083+7C>T
ENST00000409383.5:c.1119+7C>T	ENSP00000386346.1:n.1119+7C>T
ENST00000409383.6:c.1083+7C>T	ENSP00000386346.2:n.1083+7C>T
ENST00000428225.5:c.1060+7C>T
ENST00000494165.1:c.214+7C>T
ENST00000519937.6:c.1083+7C>T	ENSP00000428719.2:n.1083+7C>T
XM_005264487.2:c.1119+7C>T	XP_005264544.1:n.1119+7C>T
XM_005264488.2:c.1071+7C>T	XP_005264545.2:n.1071+7C>T
XM_005264488.4:c.1071+7C>T	XP_005264545.2:n.1071+7C>T