Canonical Allele Identifier: CA632375726
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs866318237
gnomAD v2: 19-18898163-A-C
gnomAD v3: 19-18787354-A-C
gnomAD v4: 19-18787354-A-C
MyVariant Identifiers: chr19:g.18898163A>C (hg19) chr19:g.18787354A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787354A>C , CM000681.2:g.18787354A>C GRCh38
NC_000019.9:g.18898163A>C , CM000681.1:g.18898163A>C GRCh37
NC_000019.8:g.18759163A>C NCBI36
NG_007070.1:g.8952T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1135+137T>G MANE Select ENSP00000222271.2:n.1135+137T>G
ENST00000222271.6:c.1135+137T>G ENSP00000222271.2:n.1135+137T>G
ENST00000425807.1:c.976+137T>G ENSP00000403792.1:n.976+137T>G
ENST00000542601.6:c.1036+137T>G ENSP00000439156.2:n.1036+137T>G
NM_000095.2:c.1135+137T>G NP_000086.2:n.1135+137T>G
NM_000095.3:c.1135+137T>G MANE Select NP_000086.2:n.1135+137T>G
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