Canonical Allele Identifier: CA210536

Gene: SFTPC

Linked Data

• ClinVar Variation Id: 13208
• ClinVar RCV Id: RCV000014095 ; RCV000731190 ; RCV002415413 ; RCV002509156
• dbSNP Id: rs121917834
• ExAC: 8:22020609 T / C
• gnomAD v2: 8-22020609-T-C
• gnomAD v4: 8-22163096-T-C
• MyVariant Identifiers: chr8:g.22020609T>C (hg19) ; chr8:g.22163096T>C (hg38)
• PubMed: PMID:15039969 ; PMID:15293602 ; PMID:15572558 ; PMID:19443464

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22163096T>C , CM000670.2:g.22163096T>C	GRCh38
NC_000008.10:g.22020609T>C , CM000670.1:g.22020609T>C	GRCh37
NC_000008.9:g.22076554T>C	NCBI36
NG_016968.1:g.6426T>C
NG_029659.1:g.2957T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000679463.1:c.218T>C MANE Select	ENSP00000505152.1:p.Ile73Thr
ENST00000318561.7:c.218T>C	ENSP00000316152.3:p.Ile73Thr
ENST00000437090.6:c.218T>C	ENSP00000407931.2:p.Ile73Thr
ENST00000518615.2:n.238T>C
ENST00000520605.5:c.59T>C	ENSP00000430266.1:p.Ile20Thr
ENST00000521315.5:c.218T>C	ENSP00000430410.1:p.Ile73Thr
ENST00000522109.5:c.218T>C	ENSP00000429496.1:p.Ile73Thr
ENST00000522630.2:n.17T>C
ENST00000523296.1:c.59T>C	ENSP00000429619.1:p.Ile20Thr
ENST00000524255.5:c.59T>C	ENSP00000429552.1:p.Ile20Thr
NM_001172357.1:c.218T>C	NP_001165828.1:p.Ile73Thr
NM_001172410.1:c.218T>C	NP_001165881.1:p.Ile73Thr
NM_003018.3:c.218T>C	NP_003009.2:p.Ile73Thr
XM_006716379.2:c.218T>C	XP_006716442.1:p.Ile73Thr
XM_006716380.2:c.218T>C	XP_006716443.1:p.Ile73Thr
XM_011544612.1:c.59T>C	XP_011542914.1:p.Ile20Thr
XM_011544613.1:c.59T>C	XP_011542915.1:p.Ile20Thr
NM_001317778.1:c.218T>C	NP_001304707.1:p.Ile73Thr
NM_001317779.1:c.59T>C	NP_001304708.1:p.Ile20Thr
NM_001317780.1:c.218T>C	NP_001304709.1:p.Ile73Thr
XM_011544613.3:c.59T>C	XP_011542915.1:p.Ile20Thr
NM_001172357.2:c.218T>C	NP_001165828.1:p.Ile73Thr
NM_001172410.2:c.218T>C	NP_001165881.1:p.Ile73Thr
NM_001317778.2:c.218T>C MANE Select	NP_001304707.1:p.Ile73Thr
NM_001317779.2:c.59T>C	NP_001304708.1:p.Ile20Thr
NM_001317780.2:c.218T>C	NP_001304709.1:p.Ile73Thr
NM_003018.4:c.218T>C	NP_003009.2:p.Ile73Thr
NM_001385653.1:c.218T>C	NP_001372582.1:p.Ile73Thr
NM_001385654.1:c.218T>C	NP_001372583.1:p.Ile73Thr
NM_001385655.1:c.218T>C	NP_001372584.1:p.Ile73Thr
NM_001385656.1:c.218T>C	NP_001372585.1:p.Ile73Thr
NM_001385657.1:c.218T>C	NP_001372586.1:p.Ile73Thr
NM_001385658.1:c.218T>C	NP_001372587.1:p.Ile73Thr
NM_001385659.1:c.218T>C	NP_001372588.1:p.Ile73Thr
NM_001385660.1:c.59T>C	NP_001372589.1:p.Ile20Thr