Canonical Allele Identifier: CA6872060

Gene: DHX37

Linked Data

• ClinVar Variation Id: 2442709
• ClinVar RCV Id: RCV003149481
• dbSNP Id: rs530897876
• ExAC: 12:125453116 G / A
• gnomAD v2: 12-125453116-G-A
• gnomAD v3: 12-124968570-G-A
• gnomAD v4: 12-124968570-G-A
• COSMIC: COSM5980428
• MyVariant Identifiers: chr12:g.125453116G>A (hg19) ; chr12:g.124968570G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124968570G>A , CM000674.2:g.124968570G>A	GRCh38
NC_000012.11:g.125453116G>A , CM000674.1:g.125453116G>A	GRCh37
NC_000012.10:g.124019069G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308736.7:c.1372C>T MANE Select	ENSP00000311135.2:p.Arg458Trp
ENST00000544745.2:c.843C>T
ENST00000679875.1:n.1444C>T
ENST00000308736.6:c.1372C>T	ENSP00000311135.2:p.Arg458Trp
ENST00000539298.1:n.1472C>T
ENST00000544745.1:c.733C>T	ENSP00000439009.1:p.Arg245Trp
NM_032656.3:c.1372C>T	NP_116045.2:p.Arg458Trp
XM_005253590.2:c.1372C>T	XP_005253647.1:p.Arg458Trp
XM_011538597.1:c.1372C>T	XP_011536899.1:p.Arg458Trp
XM_011538598.1:c.1372C>T	XP_011536900.1:p.Arg458Trp
XM_011538599.1:c.1372C>T	XP_011536901.1:p.Arg458Trp
XM_011538600.1:c.1372C>T	XP_011536902.1:p.Arg458Trp
XM_005253590.3:c.1372C>T	XP_005253647.1:p.Arg458Trp
XM_011538598.2:c.1372C>T	XP_011536900.1:p.Arg458Trp
XM_011538600.2:c.1372C>T	XP_011536902.1:p.Arg458Trp
XR_001748819.1:n.1475C>T
XR_001748820.1:n.1475C>T
NM_032656.4:c.1372C>T MANE Select	NP_116045.2:p.Arg458Trp