Canonical Allele Identifier: CA2838561432

Gene: SFTPC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22164109T>C , CM000670.2:g.22164109T>C	GRCh38
NC_000008.10:g.22021622T>C , CM000670.1:g.22021622T>C	GRCh37
NC_000008.9:g.22077567T>C	NCBI36
NG_016968.1:g.7439T>C
NG_029659.1:g.3970T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679463.1:c.*18+50T>C MANE Select	ENSP00000505152.1:n.*18+50T>C
ENST00000318561.7:c.*18+50T>C	ENSP00000316152.3:n.*18+50T>C
ENST00000520605.5:c.277-157T>C	ENSP00000430266.1:n.277-157T>C
ENST00000521315.5:c.*68T>C	ENSP00000430410.1:n.*68T>C
ENST00000524255.5:c.*10+58T>C	ENSP00000429552.1:n.*10+58T>C
NM_001172357.1:c.*68T>C	NP_001165828.1:n.*68T>C
NM_001172410.1:c.*10+58T>C	NP_001165881.1:n.*10+58T>C
NM_003018.3:c.*18+50T>C	NP_003009.2:n.*18+50T>C
XM_006716379.2:c.*18+50T>C	XP_006716442.1:n.*18+50T>C
XM_006716380.2:c.*10+58T>C	XP_006716443.1:n.*10+58T>C
XM_011544612.1:c.*18+50T>C	XP_011542914.1:n.*18+50T>C
XM_011544613.1:c.*10+58T>C	XP_011542915.1:n.*10+58T>C
NM_001317778.1:c.*18+50T>C	NP_001304707.1:n.*18+50T>C
NM_001317779.1:c.*18+50T>C	NP_001304708.1:n.*18+50T>C
NM_001317780.1:c.*10+58T>C	NP_001304709.1:n.*10+58T>C
XM_011544613.3:c.*10+58T>C	XP_011542915.1:n.*10+58T>C
NM_001172357.2:c.*68T>C	NP_001165828.1:n.*68T>C
NM_001172410.2:c.*10+58T>C	NP_001165881.1:n.*10+58T>C
NM_001317778.2:c.*18+50T>C MANE Select	NP_001304707.1:n.*18+50T>C
NM_001317779.2:c.*18+50T>C	NP_001304708.1:n.*18+50T>C
NM_001317780.2:c.*10+58T>C	NP_001304709.1:n.*10+58T>C
NM_003018.4:c.*18+50T>C	NP_003009.2:n.*18+50T>C
NM_001385653.1:c.*20+48T>C	NP_001372582.1:n.*20+48T>C
NM_001385654.1:c.*10+58T>C	NP_001372583.1:n.*10+58T>C
NM_001385655.1:c.*18+50T>C	NP_001372584.1:n.*18+50T>C
NM_001385656.1:c.*68T>C	NP_001372585.1:n.*68T>C
NM_001385657.1:c.*10+58T>C	NP_001372586.1:n.*10+58T>C
NM_001385658.1:c.*18+50T>C	NP_001372587.1:n.*18+50T>C
NM_001385659.1:c.*18+50T>C	NP_001372588.1:n.*18+50T>C
NM_001385660.1:c.*18+50T>C	NP_001372589.1:n.*18+50T>C