Canonical Allele Identifier: CA463070380
Gene: KCNQ3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.133187772T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132175525T>G , CM000670.2:g.132175525T>G GRCh38
NC_000008.10:g.133187772T>G , CM000670.1:g.133187772T>G GRCh37
NC_000008.9:g.133256954T>G NCBI36
NG_008854.2:g.310233A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000388996.10:c.861A>C MANE Select ENSP00000373648.3:p.Pro287=
ENST00000521134.6:c.501A>C ENSP00000429799.1:p.Pro167=
ENST00000638588.1:c.534A>C ENSP00000491940.1:p.Pro178=
ENST00000639358.1:c.511A>C
ENST00000639496.1:c.534A>C ENSP00000491165.1:p.Pro178=
ENST00000388996.8:c.861A>C ENSP00000373648.3:p.Pro287=
ENST00000519445.5:c.861A>C ENSP00000428790.1:p.Pro287=
ENST00000519589.1:n.639A>C
ENST00000521134.5:c.501A>C ENSP00000429799.1:p.Pro167=
ENST00000621976.1:c.498A>C ENSP00000482510.1:p.Pro166=
NM_001204824.1:c.501A>C NP_001191753.1:p.Pro167=
NM_004519.3:c.861A>C NP_004510.1:p.Pro287=
XM_005250914.2:c.-296A>C XP_005250971.1:n.-296A>C
XM_006716555.2:c.153A>C XP_006716618.1:p.Pro51=
XM_011517026.1:c.501A>C XP_011515328.1:p.Pro167=
XM_005250914.3:c.-296A>C XP_005250971.1:n.-296A>C
XM_006716555.3:c.153A>C XP_006716618.1:p.Pro51=
XM_011517026.2:c.501A>C XP_011515328.1:p.Pro167=
XM_017013400.1:c.639A>C XP_016868889.1:p.Pro213=
NM_004519.4:c.861A>C MANE Select NP_004510.1:p.Pro287=
NM_001204824.2:c.501A>C NP_001191753.1:p.Pro167=