Canonical Allele Identifier: CA2442451012

Gene: CHM

Linked Data

• ClinVar Variation Id: 1020967
• ClinVar RCV Id: RCV001320638
• dbSNP Id: rs1924587237

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85878962T>A , CM000685.2:g.85878962T>A	GRCh38
NC_000023.10:g.85133967T>A , CM000685.1:g.85133967T>A	GRCh37
NC_000023.9:g.85020623T>A	NCBI36
NG_009874.2:g.173601A>T , LRG_699:g.173601A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1609+3A>T MANE Select	ENSP00000350386.2:n.1609+3A>T
ENST00000357749.6:c.1609+3A>T	ENSP00000350386.2:n.1609+3A>T
ENST00000467744.2:n.127-15868A>T
NM_000390.2:c.1609+3A>T , LRG_699t1:c.1609+3A>T	NP_000381.1:n.1609+3A>T
XM_006724615.2:c.1546+3A>T	XP_006724678.1:n.1546+3A>T
XM_011530839.1:c.1165+3A>T	XP_011529141.1:n.1165+3A>T
NM_000390.3:c.1609+3A>T	NP_000381.1:n.1609+3A>T
NM_001320959.1:c.1165+3A>T	NP_001307888.1:n.1165+3A>T
NM_001362517.1:c.1165+3A>T	NP_001349446.1:n.1165+3A>T
NM_001362518.1:c.1165+3A>T	NP_001349447.1:n.1165+3A>T
NM_001362519.1:c.1165+3A>T	NP_001349448.1:n.1165+3A>T
XM_017029242.2:c.1609+3A>T	XP_016884731.1:n.1609+3A>T
XM_017029246.1:c.1165+3A>T	XP_016884735.1:n.1165+3A>T
XM_024452331.1:c.1165+3A>T	XP_024308099.1:n.1165+3A>T
NM_000390.4:c.1609+3A>T MANE Select	NP_000381.1:n.1609+3A>T
NM_001362518.2:c.1165+3A>T	NP_001349447.1:n.1165+3A>T