Canonical Allele Identifier: CA10465583

Gene: CHM

Linked Data

• ClinVar Variation Id: 1144780
• ClinVar RCV Id: RCV001483396
• dbSNP Id: rs765359472
• ExAC: X:85219002 G / A
• gnomAD v2: X-85219002-G-A
• gnomAD v4: X-85963997-G-A
• MyVariant Identifiers: chrX:g.85219002G>A (hg19) ; chrX:g.85963997G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963997G>A , CM000685.2:g.85963997G>A	GRCh38
NC_000023.10:g.85219002G>A , CM000685.1:g.85219002G>A	GRCh37
NC_000023.9:g.85105658G>A	NCBI36
NG_009874.2:g.88566C>T , LRG_699:g.88566C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.370C>T MANE Select	ENSP00000350386.2:p.Leu124Phe
ENST00000357749.6:c.370C>T	ENSP00000350386.2:p.Leu124Phe
ENST00000467744.2:n.126+63494C>T
NM_000390.2:c.370C>T , LRG_699t1:c.370C>T	NP_000381.1:p.Leu124Phe
XM_006724615.2:c.307C>T	XP_006724678.1:p.Leu103Phe
XM_011530839.1:c.-75C>T	XP_011529141.1:n.-75C>T
NM_000390.3:c.370C>T	NP_000381.1:p.Leu124Phe
NM_001320959.1:c.-75C>T	NP_001307888.1:n.-75C>T
NM_001362517.1:c.-75C>T	NP_001349446.1:n.-75C>T
NM_001362518.1:c.-75C>T	NP_001349447.1:n.-75C>T
NM_001362519.1:c.-75C>T	NP_001349448.1:n.-75C>T
XM_017029242.2:c.370C>T	XP_016884731.1:p.Leu124Phe
XM_017029246.1:c.-75C>T	XP_016884735.1:n.-75C>T
XM_024452331.1:c.-75C>T	XP_024308099.1:n.-75C>T
NM_000390.4:c.370C>T MANE Select	NP_000381.1:p.Leu124Phe
NM_001362518.2:c.-75C>T	NP_001349447.1:n.-75C>T