Canonical Allele Identifier: CA16042897

Gene: DDHD1

Linked Data

• ClinVar Variation Id: 373562
• ClinVar RCV Id: RCV000414377 ; RCV001848733 ; RCV002521427
• dbSNP Id: rs1057518484
• gnomAD v2: 14-53521294-G-A
• gnomAD v4: 14-53054576-G-A
• COSMIC: COSM4676667 ; COSM4676668
• MyVariant Identifiers: chr14:g.53521294G>A (hg19) ; chr14:g.53054576G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.53054576G>A , CM000676.2:g.53054576G>A	GRCh38
NC_000014.8:g.53521294G>A , CM000676.1:g.53521294G>A	GRCh37
NC_000014.7:g.52591044G>A	NCBI36
NG_042832.1:g.103753C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323669.10:c.1708C>T	ENSP00000327104.6:p.Arg570Cys
ENST00000673822.2:c.2299C>T MANE Select	ENSP00000500986.2:p.Arg767Cys
ENST00000673827.1:n.1975C>T
ENST00000673930.1:c.1687C>T	ENSP00000501087.1:p.Arg563Cys
ENST00000674014.1:c.1643C>T
ENST00000674152.1:c.1077C>T
ENST00000323669.9:c.2299C>T	ENSP00000327104.5:p.Arg767Cys
ENST00000357758.3:c.2299C>T	ENSP00000350401.3:p.Arg767Cys
ENST00000395606.5:c.2320C>T	ENSP00000378970.1:p.Arg774Cys
ENST00000555400.1:n.656C>T
ENST00000556027.5:n.2890C>T
ENST00000612692.4:c.1912C>T	ENSP00000483405.1:p.Arg638Cys
NM_001160147.1:c.2320C>T	NP_001153619.1:p.Arg774Cys
NM_001160148.1:c.2299C>T	NP_001153620.1:p.Arg767Cys
NM_030637.2:c.2299C>T	NP_085140.2:p.Arg767Cys
XM_005268102.1:c.2401C>T	XP_005268159.1:p.Arg801Cys
XM_005268103.1:c.2320C>T	XP_005268160.1:p.Arg774Cys
XM_005268105.1:c.2170C>T	XP_005268162.1:p.Arg724Cys
XM_011537188.1:c.2422C>T	XP_011535490.1:p.Arg808Cys
XM_011537189.1:c.2422C>T	XP_011535491.1:p.Arg808Cys
XM_005268102.3:c.2401C>T	XP_005268159.1:p.Arg801Cys
XM_005268103.3:c.2320C>T	XP_005268160.1:p.Arg774Cys
XM_005268105.3:c.2170C>T	XP_005268162.1:p.Arg724Cys
XM_011537188.3:c.2422C>T	XP_011535490.1:p.Arg808Cys
XM_011537189.3:c.2422C>T	XP_011535491.1:p.Arg808Cys
XM_017021668.2:c.2401C>T	XP_016877157.1:p.Arg801Cys
XM_017021669.2:c.2170C>T	XP_016877158.1:p.Arg724Cys
NM_001160147.2:c.2320C>T	NP_001153619.1:p.Arg774Cys
NM_001160148.2:c.2299C>T MANE Select	NP_001153620.1:p.Arg767Cys
NM_030637.3:c.2299C>T	NP_085140.2:p.Arg767Cys