Canonical Allele Identifier: CA10465529

Gene: CHM

Linked Data

• dbSNP Id: rs780605567
• ExAC: X:85213895 G / C
• gnomAD v2: X-85213895-G-C
• gnomAD v4: X-85958890-G-C
• MyVariant Identifiers: chrX:g.85213895G>C (hg19) ; chrX:g.85958890G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85958890G>C , CM000685.2:g.85958890G>C	GRCh38
NC_000023.10:g.85213895G>C , CM000685.1:g.85213895G>C	GRCh37
NC_000023.9:g.85100551G>C	NCBI36
NG_009874.2:g.93673C>G , LRG_699:g.93673C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000357749.7:c.790C>G MANE Select	ENSP00000350386.2:p.Leu264Val
ENST00000357749.6:c.790C>G	ENSP00000350386.2:p.Leu264Val
ENST00000467744.2:n.126+68601C>G
NM_000390.2:c.790C>G , LRG_699t1:c.790C>G	NP_000381.1:p.Leu264Val
XM_006724615.2:c.727C>G	XP_006724678.1:p.Leu243Val
XM_011530839.1:c.346C>G	XP_011529141.1:p.Leu116Val
NM_000390.3:c.790C>G	NP_000381.1:p.Leu264Val
NM_001320959.1:c.346C>G	NP_001307888.1:p.Leu116Val
NM_001362517.1:c.346C>G	NP_001349446.1:p.Leu116Val
NM_001362518.1:c.346C>G	NP_001349447.1:p.Leu116Val
NM_001362519.1:c.346C>G	NP_001349448.1:p.Leu116Val
XM_017029242.2:c.790C>G	XP_016884731.1:p.Leu264Val
XM_017029246.1:c.346C>G	XP_016884735.1:p.Leu116Val
XM_024452331.1:c.346C>G	XP_024308099.1:p.Leu116Val
NM_000390.4:c.790C>G MANE Select	NP_000381.1:p.Leu264Val
NM_001362518.2:c.346C>G	NP_001349447.1:p.Leu116Val