Canonical Allele Identifier: CA5574371

Gene: SFTPA1

Linked Data

• ClinVar Variation Id: 227942
• ClinVar RCV Id: RCV000217326 ; RCV000948846 ; RCV002254520 ; RCV003977616
• dbSNP Id: rs1059047
• ExAC: 10:81371637 T / C
• gnomAD v2: 10-81371637-T-C
• gnomAD v3: 10-79611881-T-C
• gnomAD v4: 10-79611881-T-C
• MyVariant Identifiers: chr10:g.81371637T>C (hg19) ; chr10:g.79611881T>C (hg38)
• PubMed: PMID:17407567

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79611881T>C , CM000672.2:g.79611881T>C	GRCh38
NC_000010.10:g.81371637T>C , CM000672.1:g.81371637T>C	GRCh37
NG_021189.1:g.5943T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398636.8:c.56T>C MANE Select	ENSP00000381633.3:p.Val19Ala
ENST00000398636.7:c.56T>C	ENSP00000381633.3:p.Val19Ala
ENST00000419470.6:c.101T>C	ENSP00000397082.2:p.Val34Ala
ENST00000428376.6:c.56T>C	ENSP00000411102.2:p.Val19Ala
ENST00000429958.5:c.56T>C	ENSP00000395527.1:p.Val19Ala
ENST00000439264.1:c.56T>C	ENSP00000401649.1:p.Val19Ala
ENST00000486922.1:n.325T>C
NM_001093770.2:c.101T>C	NP_001087239.2:p.Val34Ala
NM_001164644.1:c.56T>C	NP_001158116.1:p.Val19Ala
NM_001164645.1:c.101T>C	NP_001158117.1:p.Val34Ala
NM_001164646.1:c.56T>C	NP_001158118.1:p.Val19Ala
NM_001164647.1:c.56T>C	NP_001158119.1:p.Val19Ala
NM_005411.4:c.56T>C	NP_005402.3:p.Val19Ala
XM_005270062.3:c.56T>C	XP_005270119.1:p.Val19Ala
XM_006717953.2:c.101T>C	XP_006718016.1:p.Val34Ala
XM_005270062.5:c.56T>C	XP_005270119.1:p.Val19Ala
NM_001093770.3:c.101T>C	NP_001087239.2:p.Val34Ala
NM_001164644.2:c.56T>C	NP_001158116.1:p.Val19Ala
NM_001164645.2:c.101T>C	NP_001158117.1:p.Val34Ala
NM_001164646.2:c.56T>C	NP_001158118.1:p.Val19Ala
NM_005411.5:c.56T>C MANE Select	NP_005402.3:p.Val19Ala