Canonical Allele Identifier: CA96894234
Gene: CLOCK HGNC NCBI
TMEM165 HGNC NCBI

Linked Data

dbSNP Id: rs576755026
gnomAD v2: 4-56298112-C-T
gnomAD v3: 4-55431945-C-T
gnomAD v4: 4-55431945-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55431945C>T , CM000666.2:g.55431945C>T GRCh38
NC_000004.11:g.56298112C>T , CM000666.1:g.56298112C>T GRCh37
NC_000004.10:g.55992869C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000513440.6:c.*3470G>A (CLOCK) MANE Select ENSP00000426983.1:n.*3470G>A
ENST00000309964.8:c.*3470G>A (CLOCK) ENSP00000308741.4:n.*3470G>A
ENST00000506103.2:c.352+7302C>T (TMEM165)
ENST00000608091.1:c.408+7302C>T (TMEM165)
NM_001267843.1:c.*3470G>A (CLOCK) NP_001254772.1:n.*3470G>A
NM_004898.3:c.*3470G>A (CLOCK) NP_004889.1:n.*3470G>A
XM_005265787.1:c.*3470G>A (CLOCK) XP_005265844.1:n.*3470G>A
XM_006714054.2:c.*3470G>A (CLOCK) XP_006714117.1:n.*3470G>A
XM_011534394.1:c.898+7302C>T (TMEM165) XP_011532696.1:n.898+7302C>T
XM_011534409.1:c.*3470G>A (CLOCK) XP_011532711.1:n.*3470G>A
XM_011534410.1:c.*3470G>A (CLOCK) XP_011532712.1:n.*3470G>A
XM_011534411.1:c.*3470G>A (CLOCK) XP_011532713.1:n.*3470G>A
XM_005265787.2:c.*3470G>A (CLOCK) XP_005265844.1:n.*3470G>A
XM_011534394.3:c.898+7302C>T (TMEM165) XP_011532696.1:n.898+7302C>T
XM_011534409.2:c.*3470G>A (CLOCK) XP_011532711.1:n.*3470G>A
XM_011534410.2:c.*3470G>A (CLOCK) XP_011532712.1:n.*3470G>A
XM_011534411.2:c.*3470G>A (CLOCK) XP_011532713.1:n.*3470G>A
XM_017008854.1:c.*3470G>A (CLOCK) XP_016864343.1:n.*3470G>A
XM_017008855.1:c.*3470G>A (CLOCK) XP_016864344.1:n.*3470G>A
XM_024454284.1:c.*3470G>A (CLOCK) XP_024310052.1:n.*3470G>A
NM_004898.4:c.*3470G>A (CLOCK) MANE Select NP_004889.1:n.*3470G>A
NM_001267843.2:c.*3470G>A (CLOCK) NP_001254772.1:n.*3470G>A