Canonical Allele Identifier: CA7191004

Gene: DDHD1

Linked Data

• ClinVar Variation Id: 464309
• ClinVar RCV Id: RCV000556458 ; RCV001509454 ; RCV001848940 ; RCV002530055 ; RCV003925642
• dbSNP Id: rs144016130
• ExAC: 14:53521185 T / C
• gnomAD v2: 14-53521185-T-C
• gnomAD v3: 14-53054467-T-C
• gnomAD v4: 14-53054467-T-C
• MyVariant Identifiers: chr14:g.53521185T>C (hg19) ; chr14:g.53054467T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.53054467T>C , CM000676.2:g.53054467T>C	GRCh38
NC_000014.8:g.53521185T>C , CM000676.1:g.53521185T>C	GRCh37
NC_000014.7:g.52590935T>C	NCBI36
NG_042832.1:g.103862A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323669.10:c.1817A>G	ENSP00000327104.6:p.His606Arg
ENST00000673822.2:c.2408A>G MANE Select	ENSP00000500986.2:p.His803Arg
ENST00000673827.1:n.2084A>G
ENST00000673930.1:c.1796A>G	ENSP00000501087.1:p.His599Arg
ENST00000674014.1:c.1752A>G
ENST00000674152.1:c.1186A>G
ENST00000323669.9:c.2408A>G	ENSP00000327104.5:p.His803Arg
ENST00000357758.3:c.2408A>G	ENSP00000350401.3:p.His803Arg
ENST00000395606.5:c.2429A>G	ENSP00000378970.1:p.His810Arg
ENST00000555400.1:n.765A>G
ENST00000556027.5:n.2999A>G
ENST00000612692.4:c.2021A>G	ENSP00000483405.1:p.His674Arg
NM_001160147.1:c.2429A>G	NP_001153619.1:p.His810Arg
NM_001160148.1:c.2408A>G	NP_001153620.1:p.His803Arg
NM_030637.2:c.2408A>G	NP_085140.2:p.His803Arg
XM_005268102.1:c.2510A>G	XP_005268159.1:p.His837Arg
XM_005268103.1:c.2429A>G	XP_005268160.1:p.His810Arg
XM_005268105.1:c.2279A>G	XP_005268162.1:p.His760Arg
XM_011537188.1:c.2531A>G	XP_011535490.1:p.His844Arg
XM_011537189.1:c.2531A>G	XP_011535491.1:p.His844Arg
XM_005268102.3:c.2510A>G	XP_005268159.1:p.His837Arg
XM_005268103.3:c.2429A>G	XP_005268160.1:p.His810Arg
XM_005268105.3:c.2279A>G	XP_005268162.1:p.His760Arg
XM_011537188.3:c.2531A>G	XP_011535490.1:p.His844Arg
XM_011537189.3:c.2531A>G	XP_011535491.1:p.His844Arg
XM_017021668.2:c.2510A>G	XP_016877157.1:p.His837Arg
XM_017021669.2:c.2279A>G	XP_016877158.1:p.His760Arg
NM_001160147.2:c.2429A>G	NP_001153619.1:p.His810Arg
NM_001160148.2:c.2408A>G MANE Select	NP_001153620.1:p.His803Arg
NM_030637.3:c.2408A>G	NP_085140.2:p.His803Arg