Canonical Allele Identifier: CA339895738

Gene: KCNQ4

Linked Data

• dbSNP Id: rs1648215344
• gnomAD v4: 1-40819471-C-T
• COSMIC: COSM1296432
• MyVariant Identifiers: chr1:g.41285143C>T (hg19) ; chr1:g.40819471C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40819471C>T , CM000663.2:g.40819471C>T	GRCh38
NC_000001.10:g.41285143C>T , CM000663.1:g.41285143C>T	GRCh37
NC_000001.9:g.41057730C>T	NCBI36
NG_008139.1:g.40460C>T
NG_008139.2:g.40460C>T
NG_008139.3:g.40685C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000347132.10:c.833C>T MANE Select	ENSP00000262916.6:p.Thr278Met
ENST00000347132.9:c.833C>T	ENSP00000262916.6:p.Thr278Met
ENST00000443478.3:c.519C>T
ENST00000506017.1:n.152C>T
ENST00000509682.6:c.833C>T	ENSP00000423756.2:p.Thr278Met
NM_004700.3:c.833C>T	NP_004691.2:p.Thr278Met
NM_172163.2:c.833C>T	NP_751895.1:p.Thr278Met
XM_011542417.1:c.833C>T	XP_011540719.1:p.Thr278Met
XM_011542418.1:c.833C>T	XP_011540720.1:p.Thr278Met
XM_011542419.1:c.833C>T	XP_011540721.1:p.Thr278Met
XM_011542420.1:c.833C>T	XP_011540722.1:p.Thr278Met
XR_946798.1:n.839C>T
XR_946799.1:n.839C>T
XR_946800.1:n.839C>T
XM_017002792.1:c.-185C>T	XP_016858281.1:n.-185C>T
NM_004700.4:c.833C>T MANE Select	NP_004691.2:p.Thr278Met
NM_172163.3:c.833C>T	NP_751895.1:p.Thr278Met