Canonical Allele Identifier: CA1340034

Gene: CHIT1

Linked Data

• ClinVar Variation Id: 1600219
• ClinVar RCV Id: RCV002132191
• dbSNP Id: rs768505099
• ExAC: 1:203194811 A / C
• gnomAD v2: 1-203194811-A-C
• gnomAD v3: 1-203225683-A-C
• gnomAD v4: 1-203225683-A-C
• MyVariant Identifiers: chr1:g.203194811A>C (hg19) ; chr1:g.203225683A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.203225683A>C , CM000663.2:g.203225683A>C	GRCh38
NC_000001.10:g.203194811A>C , CM000663.1:g.203194811A>C	GRCh37
NC_000001.9:g.201461434A>C	NCBI36
NG_012867.1:g.9050T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367229.6:c.243T>G MANE Select	ENSP00000356198.1:p.Asn81Lys
ENST00000255427.7:c.243T>G	ENSP00000255427.3:p.Asn81Lys
ENST00000367229.5:c.243T>G	ENSP00000356198.1:p.Asn81Lys
ENST00000484834.5:n.4600T>G
ENST00000491855.5:c.243T>G	ENSP00000423778.1:p.Asn81Lys
ENST00000503786.1:c.243T>G	ENSP00000421617.1:p.Asn81Lys
ENST00000513472.5:n.439T>G
NM_001256125.1:c.243T>G	NP_001243054.2:p.Asn81Lys
NM_001270509.1:c.243T>G	NP_001257438.1:p.Asn81Lys
NM_003465.2:c.243T>G	NP_003456.1:p.Asn81Lys
NR_045784.1:n.339T>G
NR_045785.1:n.339T>G
XM_011509109.1:c.288T>G	XP_011507411.1:p.Asn96Lys
XM_011509110.1:c.288T>G	XP_011507412.1:p.Asn96Lys
XR_921732.1:n.288T>G
NM_003465.3:c.243T>G MANE Select	NP_003456.1:p.Asn81Lys
NM_001256125.2:c.243T>G	NP_001243054.2:p.Asn81Lys
NR_045784.2:n.280T>G
NR_045785.2:n.280T>G