Canonical Allele Identifier: CA794667
Community Standard Title: NM_004700.4(KCNQ4):c.835-13T>C
Gene: KCNQ4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40819862T>C , CM000663.2:g.40819862T>C GRCh38
NC_000001.10:g.41285534T>C , CM000663.1:g.41285534T>C GRCh37
NC_000001.9:g.41058121T>C NCBI36
NG_008139.1:g.40851T>C
NG_008139.2:g.40851T>C
NG_008139.3:g.41076T>C

Transcript Alleles

HGVS Amino-acid Change
NM_004700.4:c.835-13T>C MANE Select NP_004691.2:n.835-13T>C
ENST00000347132.10:c.835-13T>C MANE Select ENSP00000262916.6:n.835-13T>C
NM_004700.3:c.835-13T>C NP_004691.2:n.835-13T>C
NM_172163.2:c.835-13T>C NP_751895.1:n.835-13T>C
NM_172163.3:c.835-13T>C NP_751895.1:n.835-13T>C
ENST00000347132.9:c.835-13T>C ENSP00000262916.6:n.835-13T>C
ENST00000443478.3:c.521-13T>C
ENST00000506017.1:n.154-13T>C
ENST00000509682.6:c.835-13T>C ENSP00000423756.2:n.835-13T>C
XM_011542417.1:c.835-13T>C XP_011540719.1:n.835-13T>C
XM_011542418.1:c.835-13T>C XP_011540720.1:n.835-13T>C
XM_011542419.1:c.835-13T>C XP_011540721.1:n.835-13T>C
XM_011542420.1:c.835-13T>C XP_011540722.1:n.835-13T>C
XM_017002792.1:c.-183-13T>C XP_016858281.1:n.-183-13T>C
XR_946798.1:n.841-13T>C
XR_946799.1:n.841-13T>C
XR_946800.1:n.841-13T>C