Canonical Allele Identifier: CA16043301

Gene: CHM

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85911292G>A , CM000685.2:g.85911292G>A	GRCh38
NC_000023.10:g.85166297G>A , CM000685.1:g.85166297G>A	GRCh37
NC_000023.9:g.85052953G>A	NCBI36
NG_009874.2:g.141271C>T , LRG_699:g.141271C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1213C>T MANE Select	ENSP00000350386.2:p.Gln405Ter
ENST00000357749.6:c.1213C>T	ENSP00000350386.2:p.Gln405Ter
ENST00000467744.2:n.127-48198C>T
NM_000390.2:c.1213C>T , LRG_699t1:c.1213C>T	NP_000381.1:p.Gln405Ter
XM_006724615.2:c.1150C>T	XP_006724678.1:p.Gln384Ter
XM_011530839.1:c.769C>T	XP_011529141.1:p.Gln257Ter
NM_000390.3:c.1213C>T	NP_000381.1:p.Gln405Ter
NM_001320959.1:c.769C>T	NP_001307888.1:p.Gln257Ter
NM_001362517.1:c.769C>T	NP_001349446.1:p.Gln257Ter
NM_001362518.1:c.769C>T	NP_001349447.1:p.Gln257Ter
NM_001362519.1:c.769C>T	NP_001349448.1:p.Gln257Ter
XM_017029242.2:c.1213C>T	XP_016884731.1:p.Gln405Ter
XM_017029246.1:c.769C>T	XP_016884735.1:p.Gln257Ter
XM_024452331.1:c.769C>T	XP_024308099.1:p.Gln257Ter
NM_000390.4:c.1213C>T MANE Select	NP_000381.1:p.Gln405Ter
NM_001362518.2:c.769C>T	NP_001349447.1:p.Gln257Ter