Canonical Allele Identifier: CA404885406
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18786147C>G , CM000681.2:g.18786147C>G GRCh38
NC_000019.9:g.18896957C>G , CM000681.1:g.18896957C>G GRCh37
NC_000019.8:g.18757957C>G NCBI36
NG_007070.1:g.10158G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1308-1G>C MANE Select ENSP00000222271.2:n.1308-1G>C
ENST00000222271.6:c.1308-1G>C ENSP00000222271.2:n.1308-1G>C
ENST00000425807.1:c.1149-1G>C ENSP00000403792.1:n.1149-1G>C
ENST00000542601.6:c.1209-1G>C ENSP00000439156.2:n.1209-1G>C
ENST00000612179.1:n.558-1G>C
NM_000095.2:c.1308-1G>C NP_000086.2:n.1308-1G>C
NM_000095.3:c.1308-1G>C MANE Select NP_000086.2:n.1308-1G>C