Canonical Allele Identifier: CA339885258

Gene: KCNQ4

Linked Data

• gnomAD v4: 1-40784298-T-C
• MyVariant Identifiers: chr1:g.41249970T>C (hg19) ; chr1:g.40784298T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40784298T>C , CM000663.2:g.40784298T>C	GRCh38
NC_000001.10:g.41249970T>C , CM000663.1:g.41249970T>C	GRCh37
NC_000001.9:g.41022557T>C	NCBI36
NG_008139.1:g.5287T>C
NG_008139.2:g.5287T>C
NG_008139.3:g.5512T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.205T>C MANE Select	ENSP00000262916.6:p.Cys69Arg
ENST00000347132.9:c.205T>C	ENSP00000262916.6:p.Cys69Arg
ENST00000509682.6:c.205T>C	ENSP00000423756.2:p.Cys69Arg
NM_004700.3:c.205T>C	NP_004691.2:p.Cys69Arg
NM_172163.2:c.205T>C	NP_751895.1:p.Cys69Arg
XM_011542417.1:c.205T>C	XP_011540719.1:p.Cys69Arg
XM_011542418.1:c.205T>C	XP_011540720.1:p.Cys69Arg
XM_011542419.1:c.205T>C	XP_011540721.1:p.Cys69Arg
XM_011542420.1:c.205T>C	XP_011540722.1:p.Cys69Arg
XR_946798.1:n.211T>C
XR_946799.1:n.211T>C
XR_946800.1:n.211T>C
NM_004700.4:c.205T>C MANE Select	NP_004691.2:p.Cys69Arg
NM_172163.3:c.205T>C	NP_751895.1:p.Cys69Arg