Canonical Allele Identifier: CA413786238

Gene: CHM

Linked Data

• ClinVar Variation Id: 1455562
• ClinVar RCV Id: RCV001970053
• dbSNP Id: rs2147675263
• MyVariant Identifiers: chrX:g.85218672T>A (hg19) ; chrX:g.85963667T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963667T>A , CM000685.2:g.85963667T>A	GRCh38
NC_000023.10:g.85218672T>A , CM000685.1:g.85218672T>A	GRCh37
NC_000023.9:g.85105328T>A	NCBI36
NG_009874.2:g.88896A>T , LRG_699:g.88896A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.700A>T MANE Select	ENSP00000350386.2:p.Lys234Ter
ENST00000357749.6:c.700A>T	ENSP00000350386.2:p.Lys234Ter
ENST00000467744.2:n.126+63824A>T
NM_000390.2:c.700A>T , LRG_699t1:c.700A>T	NP_000381.1:p.Lys234Ter
XM_006724615.2:c.637A>T	XP_006724678.1:p.Lys213Ter
XM_011530839.1:c.256A>T	XP_011529141.1:p.Lys86Ter
NM_000390.3:c.700A>T	NP_000381.1:p.Lys234Ter
NM_001320959.1:c.256A>T	NP_001307888.1:p.Lys86Ter
NM_001362517.1:c.256A>T	NP_001349446.1:p.Lys86Ter
NM_001362518.1:c.256A>T	NP_001349447.1:p.Lys86Ter
NM_001362519.1:c.256A>T	NP_001349448.1:p.Lys86Ter
XM_017029242.2:c.700A>T	XP_016884731.1:p.Lys234Ter
XM_017029246.1:c.256A>T	XP_016884735.1:p.Lys86Ter
XM_024452331.1:c.256A>T	XP_024308099.1:p.Lys86Ter
NM_000390.4:c.700A>T MANE Select	NP_000381.1:p.Lys234Ter
NM_001362518.2:c.256A>T	NP_001349447.1:p.Lys86Ter