Canonical Allele Identifier: CA306258866
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs954751505
gnomAD v2: 19-18900035-G-A
gnomAD v4: 19-18789226-G-A
MyVariant Identifiers: chr19:g.18900035G>A (hg19) chr19:g.18789226G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18789226G>A , CM000681.2:g.18789226G>A GRCh38
NC_000019.9:g.18900035G>A , CM000681.1:g.18900035G>A GRCh37
NC_000019.8:g.18761035G>A NCBI36
NG_007070.1:g.7080C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.462C>T MANE Select ENSP00000222271.2:p.Cys154=
ENST00000222271.6:c.462C>T ENSP00000222271.2:p.Cys154=
ENST00000425807.1:c.391-334C>T ENSP00000403792.1:n.391-334C>T
ENST00000542601.6:c.363C>T ENSP00000439156.2:p.Cys121=
NM_000095.2:c.462C>T NP_000086.2:p.Cys154=
NM_000095.3:c.462C>T MANE Select NP_000086.2:p.Cys154=
Search 100 bp 5'
Search 100 bp 3'