Canonical Allele Identifier: CA16615014

Gene: DNAAF1

Linked Data

• ClinVar Variation Id: 410278
• ClinVar RCV Id: RCV000468722
• dbSNP Id: rs1060502829
• gnomAD v4: 16-84149072-C-T
• MyVariant Identifiers: chr16:g.84182677C>T (hg19) ; chr16:g.84149072C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84149072C>T , CM000678.2:g.84149072C>T	GRCh38
NC_000016.9:g.84182677C>T , CM000678.1:g.84182677C>T	GRCh37
NC_000016.8:g.82740178C>T	NCBI36
NG_021174.1:g.8813C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378553.10:c.190C>T MANE Select	ENSP00000367815.5:p.Gln64Ter
ENST00000378553.9:c.190C>T	ENSP00000367815.5:p.Gln64Ter
ENST00000563093.5:c.190C>T	ENSP00000457373.1:p.Gln64Ter
ENST00000567918.5:c.190C>T	ENSP00000455154.1:p.Gln64Ter
ENST00000570298.5:n.344C>T
NM_178452.4:c.190C>T	NP_848547.4:p.Gln64Ter
XM_006721129.1:c.190C>T	XP_006721192.1:p.Gln64Ter
XM_011522850.1:c.190C>T	XP_011521152.1:p.Gln64Ter
XM_011522851.1:c.190C>T	XP_011521153.1:p.Gln64Ter
XM_011522852.1:c.190C>T	XP_011521154.1:p.Gln64Ter
XM_011522853.1:c.190C>T	XP_011521155.1:p.Gln64Ter
XM_011522854.1:c.190C>T	XP_011521156.1:p.Gln64Ter
XM_011522855.1:c.190C>T	XP_011521157.1:p.Gln64Ter
XM_011522856.1:c.-72C>T	XP_011521158.1:n.-72C>T
XM_011522857.1:c.190C>T	XP_011521159.1:p.Gln64Ter
XM_011522858.1:c.190C>T	XP_011521160.1:p.Gln64Ter
NM_178452.5:c.190C>T	NP_848547.4:p.Gln64Ter
XM_006721129.3:c.190C>T	XP_006721192.1:p.Gln64Ter
XM_011522853.3:c.190C>T	XP_011521155.1:p.Gln64Ter
XM_011522854.3:c.190C>T	XP_011521156.1:p.Gln64Ter
XM_011522855.3:c.190C>T	XP_011521157.1:p.Gln64Ter
XM_011522857.3:c.190C>T	XP_011521159.1:p.Gln64Ter
XM_011522858.3:c.190C>T	XP_011521160.1:p.Gln64Ter
XM_017022918.2:c.190C>T	XP_016878407.1:p.Gln64Ter
XM_017022919.1:c.-72C>T	XP_016878408.1:n.-72C>T
XR_001751829.2:n.364C>T
XR_001751830.2:n.364C>T
XR_001751831.2:n.364C>T
XR_001751832.1:n.673C>T
NM_178452.6:c.190C>T MANE Select	NP_848547.4:p.Gln64Ter