Canonical Allele Identifier: CA370538493

Gene: SFTPC

Linked Data

• ClinVar Variation Id: 1750349
• ClinVar RCV Id: RCV002353616
• dbSNP Id: rs1375414266
• gnomAD v2: 8-22021549-A-C
• gnomAD v4: 8-22164036-A-C
• MyVariant Identifiers: chr8:g.22021549A>C (hg19) ; chr8:g.22164036A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22164036A>C , CM000670.2:g.22164036A>C	GRCh38
NC_000008.10:g.22021549A>C , CM000670.1:g.22021549A>C	GRCh37
NC_000008.9:g.22077494A>C	NCBI36
NG_016968.1:g.7366A>C
NG_029659.1:g.3897A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000679463.1:c.571A>C MANE Select	ENSP00000505152.1:p.Ile191Leu
ENST00000318561.7:c.589A>C	ENSP00000316152.3:p.Ile197Leu
ENST00000437090.6:c.*216A>C	ENSP00000407931.2:n.*216A>C
ENST00000520605.5:c.277-230A>C	ENSP00000430266.1:n.277-230A>C
ENST00000521315.5:c.571A>C	ENSP00000430410.1:p.Ile191Leu
ENST00000524255.5:c.430A>C	ENSP00000429552.1:p.Ile144Leu
NM_001172357.1:c.571A>C	NP_001165828.1:p.Ile191Leu
NM_001172410.1:c.589A>C	NP_001165881.1:p.Ile197Leu
NM_003018.3:c.589A>C	NP_003009.2:p.Ile197Leu
XM_006716379.2:c.571A>C	XP_006716442.1:p.Ile191Leu
XM_006716380.2:c.571A>C	XP_006716443.1:p.Ile191Leu
XM_011544612.1:c.430A>C	XP_011542914.1:p.Ile144Leu
XM_011544613.1:c.430A>C	XP_011542915.1:p.Ile144Leu
NM_001317778.1:c.571A>C	NP_001304707.1:p.Ile191Leu
NM_001317779.1:c.430A>C	NP_001304708.1:p.Ile144Leu
NM_001317780.1:c.571A>C	NP_001304709.1:p.Ile191Leu
XM_011544613.3:c.430A>C	XP_011542915.1:p.Ile144Leu
NM_001172357.2:c.571A>C	NP_001165828.1:p.Ile191Leu
NM_001172410.2:c.589A>C	NP_001165881.1:p.Ile197Leu
NM_001317778.2:c.571A>C MANE Select	NP_001304707.1:p.Ile191Leu
NM_001317779.2:c.430A>C	NP_001304708.1:p.Ile144Leu
NM_001317780.2:c.571A>C	NP_001304709.1:p.Ile191Leu
NM_003018.4:c.589A>C	NP_003009.2:p.Ile197Leu
NM_001385653.1:c.589A>C	NP_001372582.1:p.Ile197Leu
NM_001385654.1:c.589A>C	NP_001372583.1:p.Ile197Leu
NM_001385655.1:c.589A>C	NP_001372584.1:p.Ile197Leu
NM_001385656.1:c.571A>C	NP_001372585.1:p.Ile191Leu
NM_001385657.1:c.571A>C	NP_001372586.1:p.Ile191Leu
NM_001385658.1:c.571A>C	NP_001372587.1:p.Ile191Leu
NM_001385659.1:c.571A>C	NP_001372588.1:p.Ile191Leu
NM_001385660.1:c.430A>C	NP_001372589.1:p.Ile144Leu