Canonical Allele Identifier: CA9316437
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs747106682
ExAC: 19:18896933 G / A
gnomAD v2: 19-18896933-G-A
gnomAD v4: 19-18786123-G-A
MyVariant Identifiers: chr19:g.18896933G>A (hg19) chr19:g.18786123G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18786123G>A , CM000681.2:g.18786123G>A GRCh38
NC_000019.9:g.18896933G>A , CM000681.1:g.18896933G>A GRCh37
NC_000019.8:g.18757933G>A NCBI36
NG_007070.1:g.10182C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000222271.7:c.1331C>T MANE Select ENSP00000222271.2:p.Ser444Phe
ENST00000222271.6:c.1331C>T ENSP00000222271.2:p.Ser444Phe
ENST00000425807.1:c.1172C>T ENSP00000403792.1:p.Ser391Phe
ENST00000542601.6:c.1232C>T ENSP00000439156.2:p.Ser411Phe
ENST00000612179.1:n.581C>T
NM_000095.2:c.1331C>T NP_000086.2:p.Ser444Phe
NM_000095.3:c.1331C>T MANE Select NP_000086.2:p.Ser444Phe
Search 100 bp 5'
Search 100 bp 3'