Canonical Allele Identifier: CA21085907

Gene: KCNQ4

Linked Data

• dbSNP Id: rs1039948208
• gnomAD v3: 1-40834923-C-T
• gnomAD v4: 1-40834923-C-T
• MyVariant Identifiers: chr1:g.41300595C>T (hg19) ; chr1:g.40834923C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40834923C>T , CM000663.2:g.40834923C>T	GRCh38
NC_000001.10:g.41300595C>T , CM000663.1:g.41300595C>T	GRCh37
NC_000001.9:g.41073182C>T	NCBI36
NG_008139.1:g.55912C>T
NG_008139.2:g.55912C>T
NG_008139.3:g.56137C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.1614-44C>T MANE Select	ENSP00000262916.6:n.1614-44C>T
ENST00000347132.9:c.1614-44C>T	ENSP00000262916.6:n.1614-44C>T
ENST00000443478.3:c.1195-44C>T
ENST00000506017.1:n.933-44C>T
ENST00000509682.6:c.1452-44C>T	ENSP00000423756.2:n.1452-44C>T
NM_004700.3:c.1614-44C>T	NP_004691.2:n.1614-44C>T
NM_172163.2:c.1452-44C>T	NP_751895.1:n.1452-44C>T
XR_946798.1:n.1620-28C>T
XR_946799.1:n.1620-28C>T
XR_946800.1:n.1369-44C>T
XM_017002792.1:c.597-44C>T	XP_016858281.1:n.597-44C>T
NM_004700.4:c.1614-44C>T MANE Select	NP_004691.2:n.1614-44C>T
NM_172163.3:c.1452-44C>T	NP_751895.1:n.1452-44C>T