Canonical Allele Identifier: CA370538344
Gene: SFTPC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22163959C>G , CM000670.2:g.22163959C>G GRCh38
NC_000008.10:g.22021472C>G , CM000670.1:g.22021472C>G GRCh37
NC_000008.9:g.22077417C>G NCBI36
NG_016968.1:g.7289C>G
NG_029659.1:g.3820C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000679463.1:c.494C>G MANE Select ENSP00000505152.1:p.Ser165Ter
ENST00000318561.7:c.512C>G ENSP00000316152.3:p.Ser171Ter
ENST00000437090.6:c.*139C>G ENSP00000407931.2:n.*139C>G
ENST00000520605.5:c.277-307C>G ENSP00000430266.1:n.277-307C>G
ENST00000521315.5:c.494C>G ENSP00000430410.1:p.Ser165Ter
ENST00000522109.5:c.*395C>G ENSP00000429496.1:n.*395C>G
ENST00000523296.1:c.335C>G ENSP00000429619.1:p.Ser112Ter
ENST00000524255.5:c.353C>G ENSP00000429552.1:p.Ser118Ter
NM_001172357.1:c.494C>G NP_001165828.1:p.Ser165Ter
NM_001172410.1:c.512C>G NP_001165881.1:p.Ser171Ter
NM_003018.3:c.512C>G NP_003009.2:p.Ser171Ter
XM_006716379.2:c.494C>G XP_006716442.1:p.Ser165Ter
XM_006716380.2:c.494C>G XP_006716443.1:p.Ser165Ter
XM_011544612.1:c.353C>G XP_011542914.1:p.Ser118Ter
XM_011544613.1:c.353C>G XP_011542915.1:p.Ser118Ter
NM_001317778.1:c.494C>G NP_001304707.1:p.Ser165Ter
NM_001317779.1:c.353C>G NP_001304708.1:p.Ser118Ter
NM_001317780.1:c.494C>G NP_001304709.1:p.Ser165Ter
XM_011544613.3:c.353C>G XP_011542915.1:p.Ser118Ter
NM_001172357.2:c.494C>G NP_001165828.1:p.Ser165Ter
NM_001172410.2:c.512C>G NP_001165881.1:p.Ser171Ter
NM_001317778.2:c.494C>G MANE Select NP_001304707.1:p.Ser165Ter
NM_001317779.2:c.353C>G NP_001304708.1:p.Ser118Ter
NM_001317780.2:c.494C>G NP_001304709.1:p.Ser165Ter
NM_003018.4:c.512C>G NP_003009.2:p.Ser171Ter
NM_001385653.1:c.512C>G NP_001372582.1:p.Ser171Ter
NM_001385654.1:c.512C>G NP_001372583.1:p.Ser171Ter
NM_001385655.1:c.512C>G NP_001372584.1:p.Ser171Ter
NM_001385656.1:c.494C>G NP_001372585.1:p.Ser165Ter
NM_001385657.1:c.494C>G NP_001372586.1:p.Ser165Ter
NM_001385658.1:c.494C>G NP_001372587.1:p.Ser165Ter
NM_001385659.1:c.494C>G NP_001372588.1:p.Ser165Ter
NM_001385660.1:c.353C>G NP_001372589.1:p.Ser118Ter