Canonical Allele Identifier: CA10630673

Gene: SFTPC

Linked Data

• ClinVar Variation Id: 362544
• ClinVar RCV Id: RCV000311642 ; RCV000346624 ; RCV000392960 ; RCV001158818 ; RCV001653736
• dbSNP Id: rs28438700
• gnomAD v2: 8-22019208-G-C
• gnomAD v3: 8-22161695-G-C
• gnomAD v4: 8-22161695-G-C
• MyVariant Identifiers: chr8:g.22019208G>C (hg19) ; chr8:g.22161695G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22161695G>C , CM000670.2:g.22161695G>C	GRCh38
NC_000008.10:g.22019208G>C , CM000670.1:g.22019208G>C	GRCh37
NC_000008.9:g.22075153G>C	NCBI36
NG_016968.1:g.5025G>C
NG_029659.1:g.1556G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318561.7:c.-134G>C	ENSP00000316152.3:n.-134G>C
ENST00000524318.3:n.740-81G>C
NM_001172357.1:c.-134G>C	NP_001165828.1:n.-134G>C
NM_001172410.1:c.-134G>C	NP_001165881.1:n.-134G>C
NM_003018.3:c.-134G>C	NP_003009.2:n.-134G>C
NM_001317778.1:c.-134G>C	NP_001304707.1:n.-134G>C
NM_001317779.1:c.-134G>C	NP_001304708.1:n.-134G>C
NM_001317780.1:c.-134G>C	NP_001304709.1:n.-134G>C
NM_001385654.1:c.-53-81G>C	NP_001372583.1:n.-53-81G>C
NM_001385655.1:c.-53-81G>C	NP_001372584.1:n.-53-81G>C
NM_001385656.1:c.-53-81G>C	NP_001372585.1:n.-53-81G>C
NM_001385657.1:c.-53-81G>C	NP_001372586.1:n.-53-81G>C
NM_001385658.1:c.-53-81G>C	NP_001372587.1:n.-53-81G>C
NM_001385659.1:c.-53-81G>C	NP_001372588.1:n.-53-81G>C
NM_001385660.1:c.-53-81G>C	NP_001372589.1:n.-53-81G>C