Canonical Allele Identifier: CA396939815

Gene: DNAAF1

Linked Data

• ClinVar Variation Id: 3083296
• ClinVar RCV Id: RCV004368714
• dbSNP Id: rs1268513300
• gnomAD v2: 16-84182635-T-C
• gnomAD v4: 16-84149030-T-C
• COSMIC: COSM4678211
• MyVariant Identifiers: chr16:g.84182635T>C (hg19) ; chr16:g.84149030T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84149030T>C , CM000678.2:g.84149030T>C	GRCh38
NC_000016.9:g.84182635T>C , CM000678.1:g.84182635T>C	GRCh37
NC_000016.8:g.82740136T>C	NCBI36
NG_021174.1:g.8771T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378553.10:c.148T>C MANE Select	ENSP00000367815.5:p.Cys50Arg
ENST00000378553.9:c.148T>C	ENSP00000367815.5:p.Cys50Arg
ENST00000563093.5:c.148T>C	ENSP00000457373.1:p.Cys50Arg
ENST00000567918.5:c.148T>C	ENSP00000455154.1:p.Cys50Arg
ENST00000570298.5:n.302T>C
NM_178452.4:c.148T>C	NP_848547.4:p.Cys50Arg
XM_006721129.1:c.148T>C	XP_006721192.1:p.Cys50Arg
XM_011522850.1:c.148T>C	XP_011521152.1:p.Cys50Arg
XM_011522851.1:c.148T>C	XP_011521153.1:p.Cys50Arg
XM_011522852.1:c.148T>C	XP_011521154.1:p.Cys50Arg
XM_011522853.1:c.148T>C	XP_011521155.1:p.Cys50Arg
XM_011522854.1:c.148T>C	XP_011521156.1:p.Cys50Arg
XM_011522855.1:c.148T>C	XP_011521157.1:p.Cys50Arg
XM_011522856.1:c.-114T>C	XP_011521158.1:n.-114T>C
XM_011522857.1:c.148T>C	XP_011521159.1:p.Cys50Arg
XM_011522858.1:c.148T>C	XP_011521160.1:p.Cys50Arg
NM_178452.5:c.148T>C	NP_848547.4:p.Cys50Arg
XM_006721129.3:c.148T>C	XP_006721192.1:p.Cys50Arg
XM_011522853.3:c.148T>C	XP_011521155.1:p.Cys50Arg
XM_011522854.3:c.148T>C	XP_011521156.1:p.Cys50Arg
XM_011522855.3:c.148T>C	XP_011521157.1:p.Cys50Arg
XM_011522857.3:c.148T>C	XP_011521159.1:p.Cys50Arg
XM_011522858.3:c.148T>C	XP_011521160.1:p.Cys50Arg
XM_017022918.2:c.148T>C	XP_016878407.1:p.Cys50Arg
XM_017022919.1:c.-114T>C	XP_016878408.1:n.-114T>C
XR_001751829.2:n.322T>C
XR_001751830.2:n.322T>C
XR_001751831.2:n.322T>C
XR_001751832.1:n.631T>C
NM_178452.6:c.148T>C MANE Select	NP_848547.4:p.Cys50Arg