Canonical Allele Identifier: CA632626778
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs1278223182
gnomAD v2: 19-18897006-T-G
gnomAD v3: 19-18786196-T-G
gnomAD v4: 19-18786196-T-G
MyVariant Identifiers: chr19:g.18897006T>G (hg19) chr19:g.18786196T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18786196T>G , CM000681.2:g.18786196T>G GRCh38
NC_000019.9:g.18897006T>G , CM000681.1:g.18897006T>G GRCh37
NC_000019.8:g.18758006T>G NCBI36
NG_007070.1:g.10109A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000222271.7:c.1307+43A>C MANE Select ENSP00000222271.2:n.1307+43A>C
ENST00000222271.6:c.1307+43A>C ENSP00000222271.2:n.1307+43A>C
ENST00000425807.1:c.1148+43A>C ENSP00000403792.1:n.1148+43A>C
ENST00000542601.6:c.1208+43A>C ENSP00000439156.2:n.1208+43A>C
ENST00000612179.1:n.557+43A>C
NM_000095.2:c.1307+43A>C NP_000086.2:n.1307+43A>C
NM_000095.3:c.1307+43A>C MANE Select NP_000086.2:n.1307+43A>C
Search 100 bp 5'
Search 100 bp 3'