Canonical Allele Identifier: CA1164545561
Community Standard Title: NM_004700.4(KCNQ4):c.872C= (p.Pro291=)
Gene: KCNQ4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40819912C= , CM000663.2:g.40819912C= GRCh38
NC_000001.10:g.41285584C= , CM000663.1:g.41285584C= GRCh37
NC_000001.9:g.41058171C= NCBI36
NG_008139.1:g.40901C=
NG_008139.2:g.40901C=
NG_008139.3:g.41126C=

Transcript Alleles

HGVS Amino-acid Change
NM_004700.4:c.872C= MANE Select NP_004691.2:p.Pro291=
ENST00000347132.10:c.872C= MANE Select ENSP00000262916.6:p.Pro291=
NM_004700.3:c.872C= NP_004691.2:p.Pro291=
NM_172163.2:c.872C= NP_751895.1:p.Pro291=
NM_172163.3:c.872C= NP_751895.1:p.Pro291=
ENST00000347132.9:c.872C= ENSP00000262916.6:p.Pro291=
ENST00000443478.3:c.558C=
ENST00000506017.1:n.191C=
ENST00000509682.6:c.872C= ENSP00000423756.2:p.Pro291=
XM_011542417.1:c.872C= XP_011540719.1:p.Pro291=
XM_011542418.1:c.872C= XP_011540720.1:p.Pro291=
XM_011542419.1:c.872C= XP_011540721.1:p.Pro291=
XM_011542420.1:c.872C= XP_011540722.1:p.Pro291=
XM_017002792.1:c.-146C= XP_016858281.1:n.-146C=
XR_946798.1:n.878C=
XR_946799.1:n.878C=
XR_946800.1:n.878C=