Canonical Allele Identifier: CA2579656036

Gene: CHM

Linked Data

• ClinVar Variation Id: 2157018
• ClinVar RCV Id: RCV003079480
• gnomAD v4: X-85963657-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963657G>A , CM000685.2:g.85963657G>A	GRCh38
NC_000023.10:g.85218662G>A , CM000685.1:g.85218662G>A	GRCh37
NC_000023.9:g.85105318G>A	NCBI36
NG_009874.2:g.88906C>T , LRG_699:g.88906C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000357749.7:c.702+8C>T MANE Select	ENSP00000350386.2:n.702+8C>T
ENST00000357749.6:c.702+8C>T	ENSP00000350386.2:n.702+8C>T
ENST00000467744.2:n.126+63834C>T
NM_000390.2:c.702+8C>T , LRG_699t1:c.702+8C>T	NP_000381.1:n.702+8C>T
XM_006724615.2:c.639+8C>T	XP_006724678.1:n.639+8C>T
XM_011530839.1:c.258+8C>T	XP_011529141.1:n.258+8C>T
NM_000390.3:c.702+8C>T	NP_000381.1:n.702+8C>T
NM_001320959.1:c.258+8C>T	NP_001307888.1:n.258+8C>T
NM_001362517.1:c.258+8C>T	NP_001349446.1:n.258+8C>T
NM_001362518.1:c.258+8C>T	NP_001349447.1:n.258+8C>T
NM_001362519.1:c.258+8C>T	NP_001349448.1:n.258+8C>T
XM_017029242.2:c.702+8C>T	XP_016884731.1:n.702+8C>T
XM_017029246.1:c.258+8C>T	XP_016884735.1:n.258+8C>T
XM_024452331.1:c.258+8C>T	XP_024308099.1:n.258+8C>T
NM_000390.4:c.702+8C>T MANE Select	NP_000381.1:n.702+8C>T
NM_001362518.2:c.258+8C>T	NP_001349447.1:n.258+8C>T