Canonical Allele Identifier: CA413787374

Gene: CHM

Linked Data

• ClinVar Variation Id: 967667
• ClinVar RCV Id: RCV001242636 ; RCV001828998 ; RCV002564036
• dbSNP Id: rs1355442853
• gnomAD v2: X-85219020-G-C
• gnomAD v3: X-85964015-G-C
• gnomAD v4: X-85964015-G-C
• MyVariant Identifiers: chrX:g.85219020G>C (hg19) ; chrX:g.85964015G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85964015G>C , CM000685.2:g.85964015G>C	GRCh38
NC_000023.10:g.85219020G>C , CM000685.1:g.85219020G>C	GRCh37
NC_000023.9:g.85105676G>C	NCBI36
NG_009874.2:g.88548C>G , LRG_699:g.88548C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.352C>G MANE Select	ENSP00000350386.2:p.Leu118Val
ENST00000357749.6:c.352C>G	ENSP00000350386.2:p.Leu118Val
ENST00000467744.2:n.126+63476C>G
NM_000390.2:c.352C>G , LRG_699t1:c.352C>G	NP_000381.1:p.Leu118Val
XM_006724615.2:c.289C>G	XP_006724678.1:p.Leu97Val
XM_011530839.1:c.-93C>G	XP_011529141.1:n.-93C>G
NM_000390.3:c.352C>G	NP_000381.1:p.Leu118Val
NM_001320959.1:c.-93C>G	NP_001307888.1:n.-93C>G
NM_001362517.1:c.-93C>G	NP_001349446.1:n.-93C>G
NM_001362518.1:c.-93C>G	NP_001349447.1:n.-93C>G
NM_001362519.1:c.-93C>G	NP_001349448.1:n.-93C>G
XM_017029242.2:c.352C>G	XP_016884731.1:p.Leu118Val
XM_017029246.1:c.-93C>G	XP_016884735.1:n.-93C>G
XM_024452331.1:c.-93C>G	XP_024308099.1:n.-93C>G
NM_000390.4:c.352C>G MANE Select	NP_000381.1:p.Leu118Val
NM_001362518.2:c.-93C>G	NP_001349447.1:n.-93C>G