Canonical Allele Identifier: CA8202470

Gene: DNAAF1

Linked Data

• ClinVar Variation Id: 445734
• ClinVar RCV Id: RCV000514425 ; RCV002060208
• dbSNP Id: rs201504436
• ExAC: 16:84188164 G / A
• gnomAD v2: 16-84188164-G-A
• gnomAD v3: 16-84154559-G-A
• gnomAD v4: 16-84154559-G-A
• MyVariant Identifiers: chr16:g.84188164G>A (hg19) ; chr16:g.84154559G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84154559G>A , CM000678.2:g.84154559G>A	GRCh38
NC_000016.9:g.84188164G>A , CM000678.1:g.84188164G>A	GRCh37
NC_000016.8:g.82745665G>A	NCBI36
NG_021174.1:g.14300G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378553.10:c.353-18G>A MANE Select	ENSP00000367815.5:n.353-18G>A
ENST00000378553.9:c.353-18G>A	ENSP00000367815.5:n.353-18G>A
ENST00000563093.5:c.353-18G>A	ENSP00000457373.1:n.353-18G>A
ENST00000567918.5:c.353-18G>A	ENSP00000455154.1:n.353-18G>A
ENST00000570298.5:n.507-18G>A
NM_178452.4:c.353-18G>A	NP_848547.4:n.353-18G>A
XM_006721129.1:c.353-18G>A	XP_006721192.1:n.353-18G>A
XM_011522850.1:c.353-18G>A	XP_011521152.1:n.353-18G>A
XM_011522851.1:c.353-18G>A	XP_011521153.1:n.353-18G>A
XM_011522852.1:c.353-18G>A	XP_011521154.1:n.353-18G>A
XM_011522853.1:c.353-18G>A	XP_011521155.1:n.353-18G>A
XM_011522854.1:c.353-18G>A	XP_011521156.1:n.353-18G>A
XM_011522855.1:c.353-18G>A	XP_011521157.1:n.353-18G>A
XM_011522856.1:c.92-18G>A	XP_011521158.1:n.92-18G>A
XM_011522857.1:c.353-18G>A	XP_011521159.1:n.353-18G>A
XM_011522858.1:c.353-18G>A	XP_011521160.1:n.353-18G>A
NM_178452.5:c.353-18G>A	NP_848547.4:n.353-18G>A
XM_006721129.3:c.353-18G>A	XP_006721192.1:n.353-18G>A
XM_011522853.3:c.353-18G>A	XP_011521155.1:n.353-18G>A
XM_011522854.3:c.353-18G>A	XP_011521156.1:n.353-18G>A
XM_011522855.3:c.353-18G>A	XP_011521157.1:n.353-18G>A
XM_011522857.3:c.353-18G>A	XP_011521159.1:n.353-18G>A
XM_011522858.3:c.353-18G>A	XP_011521160.1:n.353-18G>A
XM_017022918.2:c.353-18G>A	XP_016878407.1:n.353-18G>A
XM_017022919.1:c.92-18G>A	XP_016878408.1:n.92-18G>A
XR_001751829.2:n.527-18G>A
XR_001751830.2:n.527-18G>A
XR_001751831.2:n.527-18G>A
XR_001751832.1:n.836-18G>A
NM_178452.6:c.353-18G>A MANE Select	NP_848547.4:n.353-18G>A