Canonical Allele Identifier: CA352591980

Gene: DHX30

Linked Data

• ClinVar Variation Id: 523233
• ClinVar RCV Id: RCV000626487 ; RCV001764741
• dbSNP Id: rs1553707019
• gnomAD v4: 3-47848771-G-A
• COSMIC: COSM3380610
• MyVariant Identifiers: chr3:g.47890261G>A (hg19) ; chr3:g.47848771G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47848771G>A , CM000665.2:g.47848771G>A	GRCh38
NC_000003.11:g.47890261G>A , CM000665.1:g.47890261G>A	GRCh37
NC_000003.10:g.47865265G>A	NCBI36
NG_052840.1:g.245509C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000445061.6:c.2723G>A MANE Select	ENSP00000405620.1:p.Arg908Gln
ENST00000348968.8:c.2639G>A	ENSP00000343442.4:p.Arg880Gln
ENST00000395745.6:c.*2623G>A	ENSP00000379094.2:n.*2623G>A
ENST00000445061.5:c.2723G>A	ENSP00000405620.1:p.Arg908Gln
ENST00000446256.6:c.2723G>A	ENSP00000392601.3:p.Arg908Gln
ENST00000457607.1:c.2807G>A	ENSP00000394682.1:p.Arg936Gln
ENST00000474183.1:n.840G>A
ENST00000619982.4:c.2606G>A	ENSP00000483160.1:p.Arg869Gln
NM_014966.3:c.2606G>A	NP_055781.2:p.Arg869Gln
NM_138615.2:c.2723G>A	NP_619520.1:p.Arg908Gln
XM_006713033.1:c.2627G>A	XP_006713096.1:p.Arg876Gln
XM_011533490.1:c.2936G>A	XP_011531792.1:p.Arg979Gln
XM_011533491.1:c.2936G>A	XP_011531793.1:p.Arg979Gln
XM_011533492.1:c.2936G>A	XP_011531794.1:p.Arg979Gln
XM_011533493.1:c.2825G>A	XP_011531795.1:p.Arg942Gln
XM_011533494.1:c.2723G>A	XP_011531796.1:p.Arg908Gln
XM_011533495.1:c.2723G>A	XP_011531797.1:p.Arg908Gln
XM_011533496.1:c.2639G>A	XP_011531798.1:p.Arg880Gln
XM_011533497.1:c.2639G>A	XP_011531799.1:p.Arg880Gln
XM_011533498.1:c.2639G>A	XP_011531800.1:p.Arg880Gln
NM_001330990.1:c.2639G>A	NP_001317919.1:p.Arg880Gln
XM_011533490.2:c.2936G>A	XP_011531792.1:p.Arg979Gln
XM_011533494.3:c.2723G>A	XP_011531796.1:p.Arg908Gln
XM_011533495.2:c.2723G>A	XP_011531797.1:p.Arg908Gln
XM_011533497.2:c.2639G>A	XP_011531799.1:p.Arg880Gln
XM_017005914.1:c.2855G>A	XP_016861403.1:p.Arg952Gln
XM_017005915.1:c.2627G>A	XP_016861404.1:p.Arg876Gln
XM_017005916.2:c.2612G>A	XP_016861405.1:p.Arg871Gln
XM_017005917.1:c.2606G>A	XP_016861406.1:p.Arg869Gln
XM_024453405.1:c.2825G>A	XP_024309173.1:p.Arg942Gln
NM_138615.3:c.2723G>A MANE Select	NP_619520.1:p.Arg908Gln
NM_001330990.2:c.2639G>A	NP_001317919.1:p.Arg880Gln
NM_014966.4:c.2606G>A	NP_055781.2:p.Arg869Gln