Canonical Allele Identifier: CA2659874529

Gene: SFTPB

Linked Data

• gnomAD v4: 2-85663334-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85663334C>T , CM000664.2:g.85663334C>T	GRCh38
NC_000002.11:g.85890457C>T , CM000664.1:g.85890457C>T	GRCh37
NC_000002.10:g.85743968C>T	NCBI36
NG_016967.1:g.10408G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409383.6:c.1002+12G>A	ENSP00000386346.2:n.1002+12G>A
ENST00000519937.7:c.1002+12G>A MANE Select	ENSP00000428719.2:n.1002+12G>A
ENST00000393822.7:c.1002+12G>A	ENSP00000377409.4:n.1002+12G>A
ENST00000409383.5:c.1038+12G>A	ENSP00000386346.1:n.1038+12G>A
ENST00000428225.5:c.979+12G>A
ENST00000491167.1:n.202+12G>A
ENST00000494165.1:c.133+12G>A
ENST00000519937.6:c.1002+12G>A	ENSP00000428719.2:n.1002+12G>A
NM_000542.3:c.1038+12G>A	NP_000533.3:n.1038+12G>A
NM_198843.2:c.1038+12G>A	NP_942140.2:n.1038+12G>A
XM_005264487.2:c.1038+12G>A	XP_005264544.1:n.1038+12G>A
XM_005264488.2:c.990+12G>A	XP_005264545.2:n.990+12G>A
XM_005264490.3:c.1002+12G>A	XP_005264547.2:n.1002+12G>A
XM_005264488.4:c.990+12G>A	XP_005264545.2:n.990+12G>A
XM_005264490.4:c.1002+12G>A	XP_005264547.2:n.1002+12G>A
NM_000542.4:c.1002+12G>A	NP_000533.4:n.1002+12G>A
NM_001367281.1:c.1002+12G>A	NP_001354210.1:n.1002+12G>A
NM_198843.3:c.1002+12G>A	NP_942140.3:n.1002+12G>A
NM_000542.5:c.1002+12G>A MANE Select	NP_000533.4:n.1002+12G>A