Canonical Allele Identifier: CA347487152

Gene: SFTPB

Linked Data

• dbSNP Id: rs1338031368
• gnomAD v3: 2-85663398-A-G
• gnomAD v4: 2-85663398-A-G
• COSMIC: COSM2822734 ; COSM4315855
• MyVariant Identifiers: chr2:g.85890521A>G (hg19) ; chr2:g.85663398A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85663398A>G , CM000664.2:g.85663398A>G	GRCh38
NC_000002.11:g.85890521A>G , CM000664.1:g.85890521A>G	GRCh37
NC_000002.10:g.85744032A>G	NCBI36
NG_016967.1:g.10344T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409383.6:c.950T>C	ENSP00000386346.2:p.Ile317Thr
ENST00000519937.7:c.950T>C MANE Select	ENSP00000428719.2:p.Ile317Thr
ENST00000393822.7:c.950T>C	ENSP00000377409.4:p.Ile317Thr
ENST00000409383.5:c.986T>C	ENSP00000386346.1:p.Ile329Thr
ENST00000428225.5:c.927T>C
ENST00000491167.1:n.150T>C
ENST00000494165.1:c.81T>C
ENST00000519937.6:c.950T>C	ENSP00000428719.2:p.Ile317Thr
NM_000542.3:c.986T>C	NP_000533.3:p.Ile329Thr
NM_198843.2:c.986T>C	NP_942140.2:p.Ile329Thr
XM_005264487.2:c.986T>C	XP_005264544.1:p.Ile329Thr
XM_005264488.2:c.938T>C	XP_005264545.2:p.Ile313Thr
XM_005264490.3:c.950T>C	XP_005264547.2:p.Ile317Thr
XM_005264488.4:c.938T>C	XP_005264545.2:p.Ile313Thr
XM_005264490.4:c.950T>C	XP_005264547.2:p.Ile317Thr
NM_000542.4:c.950T>C	NP_000533.4:p.Ile317Thr
NM_001367281.1:c.950T>C	NP_001354210.1:p.Ile317Thr
NM_198843.3:c.950T>C	NP_942140.3:p.Ile317Thr
NM_000542.5:c.950T>C MANE Select	NP_000533.4:p.Ile317Thr