Canonical Allele Identifier: CA4664039

Gene: SFTPC

Linked Data

• dbSNP Id: rs755608045
• ExAC: 8:22021345 T / TC
• gnomAD v2: 8-22021345-T-TC
• gnomAD v4: 8-22163832-T-TC
• MyVariant Identifiers: chr8:g.22021345_22021346insC (hg19) ; chr8:g.22163832_22163833insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22163835dup , CM000670.2:g.22163835dup	GRCh38
NC_000008.10:g.22021348dup , CM000670.1:g.22021348dup	GRCh37
NC_000008.9:g.22077293dup	NCBI36
NG_016968.1:g.7165dup
NG_029659.1:g.3696dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679463.1:c.436-66dup MANE Select	ENSP00000505152.1:n.436-66dup
ENST00000318561.7:c.436-48dup	ENSP00000316152.3:n.436-48dup
ENST00000437090.6:c.*15dup	ENSP00000407931.2:n.*15dup
ENST00000520605.5:c.276+289dup	ENSP00000430266.1:n.276+289dup
ENST00000521315.5:c.436-66dup	ENSP00000430410.1:n.436-66dup
ENST00000522109.5:c.*271dup	ENSP00000429496.1:n.*271dup
ENST00000523296.1:c.277-66dup	ENSP00000429619.1:n.277-66dup
ENST00000524255.5:c.277-48dup	ENSP00000429552.1:n.277-48dup
NM_001172357.1:c.436-66dup	NP_001165828.1:n.436-66dup
NM_001172410.1:c.436-48dup	NP_001165881.1:n.436-48dup
NM_003018.3:c.436-48dup	NP_003009.2:n.436-48dup
XM_006716379.2:c.436-66dup	XP_006716442.1:n.436-66dup
XM_006716380.2:c.436-66dup	XP_006716443.1:n.436-66dup
XM_011544612.1:c.277-48dup	XP_011542914.1:n.277-48dup
XM_011544613.1:c.277-48dup	XP_011542915.1:n.277-48dup
NM_001317778.1:c.436-66dup	NP_001304707.1:n.436-66dup
NM_001317779.1:c.277-48dup	NP_001304708.1:n.277-48dup
NM_001317780.1:c.436-66dup	NP_001304709.1:n.436-66dup
XM_011544613.3:c.277-48dup	XP_011542915.1:n.277-48dup
NM_001172357.2:c.436-66dup	NP_001165828.1:n.436-66dup
NM_001172410.2:c.436-48dup	NP_001165881.1:n.436-48dup
NM_001317778.2:c.436-66dup MANE Select	NP_001304707.1:n.436-66dup
NM_001317779.2:c.277-48dup	NP_001304708.1:n.277-48dup
NM_001317780.2:c.436-66dup	NP_001304709.1:n.436-66dup
NM_003018.4:c.436-48dup	NP_003009.2:n.436-48dup
NM_001385653.1:c.436-48dup	NP_001372582.1:n.436-48dup
NM_001385654.1:c.436-48dup	NP_001372583.1:n.436-48dup
NM_001385655.1:c.436-48dup	NP_001372584.1:n.436-48dup
NM_001385656.1:c.436-66dup	NP_001372585.1:n.436-66dup
NM_001385657.1:c.436-66dup	NP_001372586.1:n.436-66dup
NM_001385658.1:c.436-66dup	NP_001372587.1:n.436-66dup
NM_001385659.1:c.436-66dup	NP_001372588.1:n.436-66dup
NM_001385660.1:c.277-48dup	NP_001372589.1:n.277-48dup