Canonical Allele Identifier: CA1164544971
Community Standard Title: NM_004700.4(KCNQ4):c.689T= (p.Val230=)
Gene: KCNQ4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40818661T= , CM000663.2:g.40818661T= GRCh38
NC_000001.10:g.41284333T= , CM000663.1:g.41284333T= GRCh37
NC_000001.9:g.41056920T= NCBI36
NG_008139.1:g.39650T=
NG_008139.2:g.39650T=
NG_008139.3:g.39875T=

Transcript Alleles

HGVS Amino-acid Change
NM_004700.4:c.689T= MANE Select NP_004691.2:p.Val230=
ENST00000347132.10:c.689T= MANE Select ENSP00000262916.6:p.Val230=
NM_004700.3:c.689T= NP_004691.2:p.Val230=
NM_172163.2:c.689T= NP_751895.1:p.Val230=
NM_172163.3:c.689T= NP_751895.1:p.Val230=
ENST00000347132.9:c.689T= ENSP00000262916.6:p.Val230=
ENST00000443478.3:c.375T=
ENST00000509682.6:c.689T= ENSP00000423756.2:p.Val230=
XM_011542417.1:c.689T= XP_011540719.1:p.Val230=
XM_011542418.1:c.689T= XP_011540720.1:p.Val230=
XM_011542419.1:c.689T= XP_011540721.1:p.Val230=
XM_011542420.1:c.689T= XP_011540722.1:p.Val230=
XR_946798.1:n.695T=
XR_946799.1:n.695T=
XR_946800.1:n.695T=