Canonical Allele Identifier: CA4664059

Gene: SFTPC

Linked Data

• ClinVar Variation Id: 362560
• ClinVar RCV Id: RCV000305466 ; RCV000391181 ; RCV001358404 ; RCV002248630
• dbSNP Id: rs202145169
• ExAC: 8:22021423 G / C
• gnomAD v2: 8-22021423-G-C
• gnomAD v3: 8-22163910-G-C
• gnomAD v4: 8-22163910-G-C
• MyVariant Identifiers: chr8:g.22021423G>C (hg19) ; chr8:g.22163910G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22163910G>C , CM000670.2:g.22163910G>C	GRCh38
NC_000008.10:g.22021423G>C , CM000670.1:g.22021423G>C	GRCh37
NC_000008.9:g.22077368G>C	NCBI36
NG_016968.1:g.7240G>C
NG_029659.1:g.3771G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679463.1:c.445G>C MANE Select	ENSP00000505152.1:p.Ala149Pro
ENST00000318561.7:c.463G>C	ENSP00000316152.3:p.Ala155Pro
ENST00000437090.6:c.*90G>C	ENSP00000407931.2:n.*90G>C
ENST00000520605.5:c.277-356G>C	ENSP00000430266.1:n.277-356G>C
ENST00000521315.5:c.445G>C	ENSP00000430410.1:p.Ala149Pro
ENST00000522109.5:c.*346G>C	ENSP00000429496.1:n.*346G>C
ENST00000523296.1:c.286G>C	ENSP00000429619.1:p.Ala96Pro
ENST00000524255.5:c.304G>C	ENSP00000429552.1:p.Ala102Pro
NM_001172357.1:c.445G>C	NP_001165828.1:p.Ala149Pro
NM_001172410.1:c.463G>C	NP_001165881.1:p.Ala155Pro
NM_003018.3:c.463G>C	NP_003009.2:p.Ala155Pro
XM_006716379.2:c.445G>C	XP_006716442.1:p.Ala149Pro
XM_006716380.2:c.445G>C	XP_006716443.1:p.Ala149Pro
XM_011544612.1:c.304G>C	XP_011542914.1:p.Ala102Pro
XM_011544613.1:c.304G>C	XP_011542915.1:p.Ala102Pro
NM_001317778.1:c.445G>C	NP_001304707.1:p.Ala149Pro
NM_001317779.1:c.304G>C	NP_001304708.1:p.Ala102Pro
NM_001317780.1:c.445G>C	NP_001304709.1:p.Ala149Pro
XM_011544613.3:c.304G>C	XP_011542915.1:p.Ala102Pro
NM_001172357.2:c.445G>C	NP_001165828.1:p.Ala149Pro
NM_001172410.2:c.463G>C	NP_001165881.1:p.Ala155Pro
NM_001317778.2:c.445G>C MANE Select	NP_001304707.1:p.Ala149Pro
NM_001317779.2:c.304G>C	NP_001304708.1:p.Ala102Pro
NM_001317780.2:c.445G>C	NP_001304709.1:p.Ala149Pro
NM_003018.4:c.463G>C	NP_003009.2:p.Ala155Pro
NM_001385653.1:c.463G>C	NP_001372582.1:p.Ala155Pro
NM_001385654.1:c.463G>C	NP_001372583.1:p.Ala155Pro
NM_001385655.1:c.463G>C	NP_001372584.1:p.Ala155Pro
NM_001385656.1:c.445G>C	NP_001372585.1:p.Ala149Pro
NM_001385657.1:c.445G>C	NP_001372586.1:p.Ala149Pro
NM_001385658.1:c.445G>C	NP_001372587.1:p.Ala149Pro
NM_001385659.1:c.445G>C	NP_001372588.1:p.Ala149Pro
NM_001385660.1:c.304G>C	NP_001372589.1:p.Ala102Pro