Canonical Allele Identifier: CA7190999

Gene: DDHD1

Linked Data

• ClinVar Variation Id: 408872
• ClinVar RCV Id: RCV000462937 ; RCV001509453 ; RCV003168807
• dbSNP Id: rs193261227
• ExAC: 14:53521161 G / C
• gnomAD v2: 14-53521161-G-C
• gnomAD v3: 14-53054443-G-C
• gnomAD v4: 14-53054443-G-C
• COSMIC: COSM3936544 ; COSM3936545
• MyVariant Identifiers: chr14:g.53521161G>C (hg19) ; chr14:g.53054443G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.53054443G>C , CM000676.2:g.53054443G>C	GRCh38
NC_000014.8:g.53521161G>C , CM000676.1:g.53521161G>C	GRCh37
NC_000014.7:g.52590911G>C	NCBI36
NG_042832.1:g.103886C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323669.10:c.1841C>G	ENSP00000327104.6:p.Ser614Cys
ENST00000673822.2:c.2432C>G MANE Select	ENSP00000500986.2:p.Ser811Cys
ENST00000673827.1:n.2108C>G
ENST00000673930.1:c.1820C>G	ENSP00000501087.1:p.Ser607Cys
ENST00000674014.1:c.1776C>G
ENST00000674152.1:c.1210C>G
ENST00000323669.9:c.2432C>G	ENSP00000327104.5:p.Ser811Cys
ENST00000357758.3:c.2432C>G	ENSP00000350401.3:p.Ser811Cys
ENST00000395606.5:c.2453C>G	ENSP00000378970.1:p.Ser818Cys
ENST00000555400.1:n.789C>G
ENST00000556027.5:n.3023C>G
ENST00000612692.4:c.2045C>G	ENSP00000483405.1:p.Ser682Cys
NM_001160147.1:c.2453C>G	NP_001153619.1:p.Ser818Cys
NM_001160148.1:c.2432C>G	NP_001153620.1:p.Ser811Cys
NM_030637.2:c.2432C>G	NP_085140.2:p.Ser811Cys
XM_005268102.1:c.2534C>G	XP_005268159.1:p.Ser845Cys
XM_005268103.1:c.2453C>G	XP_005268160.1:p.Ser818Cys
XM_005268105.1:c.2303C>G	XP_005268162.1:p.Ser768Cys
XM_011537188.1:c.2555C>G	XP_011535490.1:p.Ser852Cys
XM_011537189.1:c.2555C>G	XP_011535491.1:p.Ser852Cys
XM_005268102.3:c.2534C>G	XP_005268159.1:p.Ser845Cys
XM_005268103.3:c.2453C>G	XP_005268160.1:p.Ser818Cys
XM_005268105.3:c.2303C>G	XP_005268162.1:p.Ser768Cys
XM_011537188.3:c.2555C>G	XP_011535490.1:p.Ser852Cys
XM_011537189.3:c.2555C>G	XP_011535491.1:p.Ser852Cys
XM_017021668.2:c.2534C>G	XP_016877157.1:p.Ser845Cys
XM_017021669.2:c.2303C>G	XP_016877158.1:p.Ser768Cys
NM_001160147.2:c.2453C>G	NP_001153619.1:p.Ser818Cys
NM_001160148.2:c.2432C>G MANE Select	NP_001153620.1:p.Ser811Cys
NM_030637.3:c.2432C>G	NP_085140.2:p.Ser811Cys