Canonical Allele Identifier: CA1339681
Gene: CHIT1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.203217835C>T
GRCh37 chr1:g.203186963C>T
Revel Score:
ENST00000367229 (MANE Select) 0.870
ENST00000255427 0.870
ENST00000535569 0.870
gnomAD v2:
1:203186963 C / T
gnomAD v3:
1:203217835 C / T
gnomAD v4:
chr1-203217835-C-T
Joint Max Group AF 0.08173247 (AFR)
Genomes Max Group AF 0.07961777 (AFR)
Exomes Max Group AF 0.08276952 (AFR)
ClinVar Allele:
447562
ClinVar RCV:
RCV000675721
RCV001030825
ClinVar Variation:
472285
dbSNP:
9943208
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.203217835C>T , CM000663.2:g.203217835C>T GRCh38
NC_000001.10:g.203186963C>T , CM000663.1:g.203186963C>T GRCh37
NC_000001.9:g.201453586C>T NCBI36
NG_012867.1:g.16898G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367229.6:c.1060G>A MANE Select ENSP00000356198.1:p.Gly354Arg
ENST00000255427.7:c.1003G>A ENSP00000255427.3:p.Gly335Arg
ENST00000367229.5:c.1060G>A ENSP00000356198.1:p.Gly354Arg
ENST00000479483.1:n.187G>A
ENST00000484834.5:n.5292G>A
ENST00000491855.5:c.1060G>A ENSP00000423778.1:p.Gly354Arg
ENST00000503786.1:c.*131G>A ENSP00000421617.1:n.*131G>A
NM_001256125.1:c.1003G>A NP_001243054.2:p.Gly335Arg
NM_001270509.1:c.982-57G>A NP_001257438.1:n.982-57G>A
NM_003465.2:c.1060G>A NP_003456.1:p.Gly354Arg
NR_045784.1:n.1313G>A
NR_045785.1:n.1156G>A
XM_011509109.1:c.1105G>A XP_011507411.1:p.Gly369Arg
XM_011509110.1:c.1105G>A XP_011507412.1:p.Gly369Arg
XR_921732.1:n.1262G>A
NM_003465.3:c.1060G>A MANE Select NP_003456.1:p.Gly354Arg
NM_001256125.2:c.1003G>A NP_001243054.2:p.Gly335Arg
NR_045784.2:n.1254G>A
NR_045785.2:n.1097G>A
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