Canonical Allele Identifier: CA994238259
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs1234677451
gnomAD v3: 19-18788000-T-C
gnomAD v4: 19-18788000-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18788000T>C , CM000681.2:g.18788000T>C GRCh38
NC_000019.9:g.18898809T>C , CM000681.1:g.18898809T>C GRCh37
NC_000019.8:g.18759809T>C NCBI36
NG_007070.1:g.8306A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.975+212A>G MANE Select ENSP00000222271.2:n.975+212A>G
ENST00000222271.6:c.975+212A>G ENSP00000222271.2:n.975+212A>G
ENST00000425807.1:c.816+212A>G ENSP00000403792.1:n.816+212A>G
ENST00000542601.6:c.876+212A>G ENSP00000439156.2:n.876+212A>G
NM_000095.2:c.975+212A>G NP_000086.2:n.975+212A>G
NM_000095.3:c.975+212A>G MANE Select NP_000086.2:n.975+212A>G
Search 100 bp 5'
Search 100 bp 3'