Canonical Allele Identifier: CA339895327

Gene: KCNQ4

Linked Data

• gnomAD v4: 1-40819350-C-A
• MyVariant Identifiers: chr1:g.41285022C>A (hg19) ; chr1:g.40819350C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40819350C>A , CM000663.2:g.40819350C>A	GRCh38
NC_000001.10:g.41285022C>A , CM000663.1:g.41285022C>A	GRCh37
NC_000001.9:g.41057609C>A	NCBI36
NG_008139.1:g.40339C>A
NG_008139.2:g.40339C>A
NG_008139.3:g.40564C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000347132.10:c.712C>A MANE Select	ENSP00000262916.6:p.Leu238Met
ENST00000347132.9:c.712C>A	ENSP00000262916.6:p.Leu238Met
ENST00000443478.3:c.398C>A
ENST00000506017.1:n.31C>A
ENST00000509682.6:c.712C>A	ENSP00000423756.2:p.Leu238Met
NM_004700.3:c.712C>A	NP_004691.2:p.Leu238Met
NM_172163.2:c.712C>A	NP_751895.1:p.Leu238Met
XM_011542417.1:c.712C>A	XP_011540719.1:p.Leu238Met
XM_011542418.1:c.712C>A	XP_011540720.1:p.Leu238Met
XM_011542419.1:c.712C>A	XP_011540721.1:p.Leu238Met
XM_011542420.1:c.712C>A	XP_011540722.1:p.Leu238Met
XR_946798.1:n.718C>A
XR_946799.1:n.718C>A
XR_946800.1:n.718C>A
XM_017002792.1:c.-306C>A	XP_016858281.1:n.-306C>A
NM_004700.4:c.712C>A MANE Select	NP_004691.2:p.Leu238Met
NM_172163.3:c.712C>A	NP_751895.1:p.Leu238Met