Canonical Allele Identifier: CA417357654

Gene: KCNQ4

Linked Data

• dbSNP Id: rs1372497193
• gnomAD v3: 1-40819448-C-T
• gnomAD v4: 1-40819448-C-T
• MyVariant Identifiers: chr1:g.41285120C>T (hg19) ; chr1:g.40819448C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40819448C>T , CM000663.2:g.40819448C>T	GRCh38
NC_000001.10:g.41285120C>T , CM000663.1:g.41285120C>T	GRCh37
NC_000001.9:g.41057707C>T	NCBI36
NG_008139.1:g.40437C>T
NG_008139.2:g.40437C>T
NG_008139.3:g.40662C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000347132.10:c.810C>T MANE Select	ENSP00000262916.6:p.Tyr270=
ENST00000347132.9:c.810C>T	ENSP00000262916.6:p.Tyr270=
ENST00000443478.3:c.496C>T
ENST00000506017.1:n.129C>T
ENST00000509682.6:c.810C>T	ENSP00000423756.2:p.Tyr270=
NM_004700.3:c.810C>T	NP_004691.2:p.Tyr270=
NM_172163.2:c.810C>T	NP_751895.1:p.Tyr270=
XM_011542417.1:c.810C>T	XP_011540719.1:p.Tyr270=
XM_011542418.1:c.810C>T	XP_011540720.1:p.Tyr270=
XM_011542419.1:c.810C>T	XP_011540721.1:p.Tyr270=
XM_011542420.1:c.810C>T	XP_011540722.1:p.Tyr270=
XR_946798.1:n.816C>T
XR_946799.1:n.816C>T
XR_946800.1:n.816C>T
XM_017002792.1:c.-208C>T	XP_016858281.1:n.-208C>T
NM_004700.4:c.810C>T MANE Select	NP_004691.2:p.Tyr270=
NM_172163.3:c.810C>T	NP_751895.1:p.Tyr270=