Canonical Allele Identifier: CA339895679

Gene: KCNQ4

Linked Data

• MyVariant Identifiers: chr1:g.41285125A>T (hg19) ; chr1:g.40819453A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40819453A>T , CM000663.2:g.40819453A>T	GRCh38
NC_000001.10:g.41285125A>T , CM000663.1:g.41285125A>T	GRCh37
NC_000001.9:g.41057712A>T	NCBI36
NG_008139.1:g.40442A>T
NG_008139.2:g.40442A>T
NG_008139.3:g.40667A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.815A>T MANE Select	ENSP00000262916.6:p.Asp272Val
ENST00000347132.9:c.815A>T	ENSP00000262916.6:p.Asp272Val
ENST00000443478.3:c.501A>T
ENST00000506017.1:n.134A>T
ENST00000509682.6:c.815A>T	ENSP00000423756.2:p.Asp272Val
NM_004700.3:c.815A>T	NP_004691.2:p.Asp272Val
NM_172163.2:c.815A>T	NP_751895.1:p.Asp272Val
XM_011542417.1:c.815A>T	XP_011540719.1:p.Asp272Val
XM_011542418.1:c.815A>T	XP_011540720.1:p.Asp272Val
XM_011542419.1:c.815A>T	XP_011540721.1:p.Asp272Val
XM_011542420.1:c.815A>T	XP_011540722.1:p.Asp272Val
XR_946798.1:n.821A>T
XR_946799.1:n.821A>T
XR_946800.1:n.821A>T
XM_017002792.1:c.-203A>T	XP_016858281.1:n.-203A>T
NM_004700.4:c.815A>T MANE Select	NP_004691.2:p.Asp272Val
NM_172163.3:c.815A>T	NP_751895.1:p.Asp272Val