Canonical Allele Identifier: CA6871189

Gene: DHX37

Linked Data

• ClinVar Variation Id: 735695
• ClinVar RCV Id: RCV000911270 ; RCV003913015
• dbSNP Id: rs148973591
• ExAC: 12:125432382 A / G
• gnomAD v2: 12-125432382-A-G
• gnomAD v3: 12-124947836-A-G
• gnomAD v4: 12-124947836-A-G
• MyVariant Identifiers: chr12:g.125432382A>G (hg19) ; chr12:g.124947836A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124947836A>G , CM000674.2:g.124947836A>G	GRCh38
NC_000012.11:g.125432382A>G , CM000674.1:g.125432382A>G	GRCh37
NC_000012.10:g.123998335A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308736.7:c.3440T>C MANE Select	ENSP00000311135.2:p.Ile1147Thr
ENST00000544745.2:c.3107T>C
ENST00000308736.6:c.3440T>C	ENSP00000311135.2:p.Ile1147Thr
ENST00000507267.2:n.584T>C
ENST00000539298.1:n.3540T>C
ENST00000542400.5:n.2054T>C
ENST00000544745.1:c.*108T>C	ENSP00000439009.1:n.*108T>C
NM_032656.3:c.3440T>C	NP_116045.2:p.Ile1147Thr
XR_001748819.1:n.3580T>C
XR_001748820.1:n.3533T>C
NM_032656.4:c.3440T>C MANE Select	NP_116045.2:p.Ile1147Thr