Canonical Allele Identifier: CA120508
Gene: CHIT1 HGNC NCBI
COSMIC:
COSM146738 (not active)
MyVariant.info:
GRCh38 chr1:g.203225058C>T
GRCh37 chr1:g.203194186C>T
Revel Score:
ENST00000367229 (MANE Select) 0.235
gnomAD v2:
1:203194186 C / T
gnomAD v3:
1:203225058 C / T
gnomAD v4:
chr1-203225058-C-T
Joint Max Group AF 0.34210765 (AMR)
Genomes Max Group AF 0.30715817 (NFE)
Exomes Max Group AF 0.35548094 (AMR)
ClinVar RCV:
RCV000010134
RCV000675725
ClinVar Variation:
9526
dbSNP:
2297950
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.203225058C>T , CM000663.2:g.203225058C>T GRCh38
NC_000001.10:g.203194186C>T , CM000663.1:g.203194186C>T GRCh37
NC_000001.9:g.201460809C>T NCBI36
NG_012867.1:g.9675G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367229.6:c.304G>A MANE Select ENSP00000356198.1:p.Gly102Ser
ENST00000255427.7:c.257+611G>A ENSP00000255427.3:n.257+611G>A
ENST00000367229.5:c.304G>A ENSP00000356198.1:p.Gly102Ser
ENST00000484834.5:n.4661G>A
ENST00000491855.5:c.304G>A ENSP00000423778.1:p.Gly102Ser
ENST00000503786.1:c.304G>A ENSP00000421617.1:p.Gly102Ser
ENST00000513472.5:n.500G>A
NM_001256125.1:c.257+611G>A NP_001243054.2:n.257+611G>A
NM_001270509.1:c.304G>A NP_001257438.1:p.Gly102Ser
NM_003465.2:c.304G>A NP_003456.1:p.Gly102Ser
NR_045784.1:n.400G>A
NR_045785.1:n.400G>A
XM_011509109.1:c.349G>A XP_011507411.1:p.Gly117Ser
XM_011509110.1:c.349G>A XP_011507412.1:p.Gly117Ser
XR_921732.1:n.349G>A
NM_003465.3:c.304G>A MANE Select NP_003456.1:p.Gly102Ser
NM_001256125.2:c.257+611G>A NP_001243054.2:n.257+611G>A
NR_045784.2:n.341G>A
NR_045785.2:n.341G>A
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