Canonical Allele Identifier: CA2645131009

Gene: KCNQ4

Linked Data

• gnomAD v4: 1-40784127-G-GGC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40784128_40784129insCG , CM000663.2:g.40784128_40784129insCG	GRCh38
NC_000001.10:g.41249800_41249801insCG , CM000663.1:g.41249800_41249801insCG	GRCh37
NC_000001.9:g.41022387_41022388insCG	NCBI36
NG_008139.1:g.5117_5118insCG
NG_008139.2:g.5117_5118insCG
NG_008139.3:g.5342_5343insCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.35_36insCG MANE Select	ENSP00000262916.6:p.Pro13ValfsTer12
ENST00000347132.9:c.35_36insCG	ENSP00000262916.6:p.Pro13ValfsTer12
ENST00000509682.6:c.35_36insCG	ENSP00000423756.2:p.Pro13ValfsTer12
NM_004700.3:c.35_36insCG	NP_004691.2:p.Pro13ValfsTer12
NM_172163.2:c.35_36insCG	NP_751895.1:p.Pro13ValfsTer12
XM_011542417.1:c.35_36insCG	XP_011540719.1:p.Pro13ValfsTer12
XM_011542418.1:c.35_36insCG	XP_011540720.1:p.Pro13ValfsTer12
XM_011542419.1:c.35_36insCG	XP_011540721.1:p.Pro13ValfsTer12
XM_011542420.1:c.35_36insCG	XP_011540722.1:p.Pro13ValfsTer12
XR_946798.1:n.41_42insCG
XR_946799.1:n.41_42insCG
XR_946800.1:n.41_42insCG
NM_004700.4:c.35_36insCG MANE Select	NP_004691.2:p.Pro13ValfsTer12
NM_172163.3:c.35_36insCG	NP_751895.1:p.Pro13ValfsTer12