Canonical Allele Identifier: CA417357610

Gene: KCNQ4

Linked Data

• MyVariant Identifiers: chr1:g.41285082C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40819410C>T , CM000663.2:g.40819410C>T	GRCh38
NC_000001.10:g.41285082C>T , CM000663.1:g.41285082C>T	GRCh37
NC_000001.9:g.41057669C>T	NCBI36
NG_008139.1:g.40399C>T
NG_008139.2:g.40399C>T
NG_008139.3:g.40624C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.772C>T MANE Select	ENSP00000262916.6:p.Leu258=
ENST00000347132.9:c.772C>T	ENSP00000262916.6:p.Leu258=
ENST00000443478.3:c.458C>T
ENST00000506017.1:n.91C>T
ENST00000509682.6:c.772C>T	ENSP00000423756.2:p.Leu258=
NM_004700.3:c.772C>T	NP_004691.2:p.Leu258=
NM_172163.2:c.772C>T	NP_751895.1:p.Leu258=
XM_011542417.1:c.772C>T	XP_011540719.1:p.Leu258=
XM_011542418.1:c.772C>T	XP_011540720.1:p.Leu258=
XM_011542419.1:c.772C>T	XP_011540721.1:p.Leu258=
XM_011542420.1:c.772C>T	XP_011540722.1:p.Leu258=
XR_946798.1:n.778C>T
XR_946799.1:n.778C>T
XR_946800.1:n.778C>T
XM_017002792.1:c.-246C>T	XP_016858281.1:n.-246C>T
NM_004700.4:c.772C>T MANE Select	NP_004691.2:p.Leu258=
NM_172163.3:c.772C>T	NP_751895.1:p.Leu258=