Canonical Allele Identifier: CA120506
Gene: CHIT1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.203225706C>T
GRCh37 chr1:g.203194834C>T
Revel Score:
ENST00000367229 (MANE Select) 0.282
ENST00000255427 0.282
ENST00000535569 0.282
gnomAD v2:
1:203194834 C / T
gnomAD v3:
1:203225706 C / T
gnomAD v4:
chr1-203225706-C-T
Joint Max Group AF 0.00466003 (NFE)
Genomes Max Group AF 0.00670773 (AMR)
Exomes Max Group AF 0.00471307 (NFE)
ClinVar RCV:
RCV000010133
ClinVar Variation:
9525
dbSNP:
137852607
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.203225706C>T , CM000663.2:g.203225706C>T GRCh38
NC_000001.10:g.203194834C>T , CM000663.1:g.203194834C>T GRCh37
NC_000001.9:g.201461457C>T NCBI36
NG_012867.1:g.9027G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367229.6:c.220G>A MANE Select ENSP00000356198.1:p.Glu74Lys
ENST00000255427.7:c.220G>A ENSP00000255427.3:p.Glu74Lys
ENST00000367229.5:c.220G>A ENSP00000356198.1:p.Glu74Lys
ENST00000484834.5:n.4577G>A
ENST00000491855.5:c.220G>A ENSP00000423778.1:p.Glu74Lys
ENST00000503786.1:c.220G>A ENSP00000421617.1:p.Glu74Lys
ENST00000513472.5:n.416G>A
NM_001256125.1:c.220G>A NP_001243054.2:p.Glu74Lys
NM_001270509.1:c.220G>A NP_001257438.1:p.Glu74Lys
NM_003465.2:c.220G>A NP_003456.1:p.Glu74Lys
NR_045784.1:n.316G>A
NR_045785.1:n.316G>A
XM_011509109.1:c.265G>A XP_011507411.1:p.Glu89Lys
XM_011509110.1:c.265G>A XP_011507412.1:p.Glu89Lys
XR_921732.1:n.265G>A
NM_003465.3:c.220G>A MANE Select NP_003456.1:p.Glu74Lys
NM_001256125.2:c.220G>A NP_001243054.2:p.Glu74Lys
NR_045784.2:n.257G>A
NR_045785.2:n.257G>A
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