Canonical Allele Identifier: CA332655371

Gene: CHM

Linked Data

• ClinVar Variation Id: 989635
• ClinVar RCV Id: RCV001277504 ; RCV001880228
• dbSNP Id: rs1023827317
• gnomAD v2: X-85218870-C-G
• gnomAD v3: X-85963865-C-G
• gnomAD v4: X-85963865-C-G
• MyVariant Identifiers: chrX:g.85218870C>G (hg19) ; chrX:g.85963865C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963865C>G , CM000685.2:g.85963865C>G	GRCh38
NC_000023.10:g.85218870C>G , CM000685.1:g.85218870C>G	GRCh37
NC_000023.9:g.85105526C>G	NCBI36
NG_009874.2:g.88698G>C , LRG_699:g.88698G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.502G>C MANE Select	ENSP00000350386.2:p.Glu168Gln
ENST00000357749.6:c.502G>C	ENSP00000350386.2:p.Glu168Gln
ENST00000467744.2:n.126+63626G>C
NM_000390.2:c.502G>C , LRG_699t1:c.502G>C	NP_000381.1:p.Glu168Gln
XM_006724615.2:c.439G>C	XP_006724678.1:p.Glu147Gln
XM_011530839.1:c.58G>C	XP_011529141.1:p.Glu20Gln
NM_000390.3:c.502G>C	NP_000381.1:p.Glu168Gln
NM_001320959.1:c.58G>C	NP_001307888.1:p.Glu20Gln
NM_001362517.1:c.58G>C	NP_001349446.1:p.Glu20Gln
NM_001362518.1:c.58G>C	NP_001349447.1:p.Glu20Gln
NM_001362519.1:c.58G>C	NP_001349448.1:p.Glu20Gln
XM_017029242.2:c.502G>C	XP_016884731.1:p.Glu168Gln
XM_017029246.1:c.58G>C	XP_016884735.1:p.Glu20Gln
XM_024452331.1:c.58G>C	XP_024308099.1:p.Glu20Gln
NM_000390.4:c.502G>C MANE Select	NP_000381.1:p.Glu168Gln
NM_001362518.2:c.58G>C	NP_001349447.1:p.Glu20Gln