Canonical Allele Identifier: CA522803436
Gene: KCNQ4 HGNC NCBI

Linked Data

dbSNP Id: rs1304587075
gnomAD v2: 1-41249649-G-T
MyVariant Identifiers: chr1:g.41249649G>T (hg19) chr1:g.40783977G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40783977G>T , CM000663.2:g.40783977G>T GRCh38
NC_000001.10:g.41249649G>T , CM000663.1:g.41249649G>T GRCh37
NC_000001.9:g.41022236G>T NCBI36
NG_008139.1:g.4966G>T
NG_008139.2:g.4966G>T
NG_008139.3:g.5191G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.-117G>T MANE Select ENSP00000262916.6:n.-117G>T
NM_004700.4:c.-117G>T MANE Select NP_004691.2:n.-117G>T
NM_172163.3:c.-117G>T NP_751895.1:n.-117G>T
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