Canonical Allele Identifier: CA351598996
Gene: COLQ HGNC NCBI

Linked Data

gnomAD v4: 3-15475447-G-T
MyVariant Identifiers: chr3:g.15516954G>T (hg19) chr3:g.15475447G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15475447G>T , CM000665.2:g.15475447G>T GRCh38
NC_000003.11:g.15516954G>T , CM000665.1:g.15516954G>T GRCh37
NC_000003.10:g.15491958G>T NCBI36
NG_009032.1:g.51305C>A
NG_009032.2:g.51305C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000383788.10:c.506C>A MANE Select ENSP00000373298.3:p.Ser169Ter
ENST00000604401.2:n.502C>A
ENST00000679838.1:c.*268C>A ENSP00000505708.1:n.*268C>A
ENST00000681097.1:c.506C>A ENSP00000505397.1:p.Ser169Ter
ENST00000383781.8:c.476C>A ENSP00000373291.3:p.Ser159Ter
ENST00000383786.9:c.404C>A ENSP00000373296.3:p.Ser135Ter
ENST00000383788.9:c.506C>A ENSP00000373298.3:p.Ser169Ter
ENST00000603808.5:c.506C>A ENSP00000474271.1:p.Ser169Ter
ENST00000604401.1:n.502C>A
ENST00000605797.1:c.335C>A ENSP00000474936.1:p.Ser112Ter
NM_005677.3:c.506C>A NP_005668.2:p.Ser169Ter
NM_080538.2:c.476C>A NP_536799.1:p.Ser159Ter
NM_080539.3:c.404C>A NP_536800.2:p.Ser135Ter
NM_005677.4:c.506C>A MANE Select NP_005668.2:p.Ser169Ter
NM_080539.4:c.404C>A NP_536800.2:p.Ser135Ter
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