Canonical Allele Identifier: CA754680
Gene: GJB4 HGNC NCBI
SMIM12 HGNC NCBI
ClinVar RCV:
RCV002306307
ClinVar Variation:
1723746
dbSNP:
199996022
gnomAD v2:
1:35227618 G / C
gnomAD v3:
1:34762017 G / C
gnomAD v4:
chr1-34762017-G-C
Joint Max Group AF 0.00034448 (AFR)
Genomes Max Group AF 0.00039766 (AFR)
Exomes Max Group AF 0.00018338 (AFR)
MyVariant.info:
GRCh38 chr1:g.34762017G>C
GRCh37 chr1:g.35227618G>C
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34762017G>C , CM000663.2:g.34762017G>C GRCh38
NC_000001.10:g.35227618G>C , CM000663.1:g.35227618G>C GRCh37
NC_000001.9:g.35000205G>C NCBI36
NG_016243.1:g.7277G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000339480.3:c.763G>C (GJB4) MANE Select ENSP00000345868.1:p.Ala255Pro
ENST00000339480.1:c.763G>C (GJB4) ENSP00000345868.1:p.Ala255Pro
ENST00000426886.1:c.208-43608C>G (SMIM12) ENSP00000429902.1:n.208-43608C>G
NM_153212.2:c.763G>C (GJB4) NP_694944.1:p.Ala255Pro
XM_011540679.1:c.763G>C (GJB4) XP_011538981.1:p.Ala255Pro
XR_947179.1:n.1002-18568C>G
XM_011540679.2:c.763G>C (GJB4) XP_011538981.1:p.Ala255Pro
XR_001737967.1:n.1023+36354C>G
NM_153212.3:c.763G>C (GJB4) MANE Select NP_694944.1:p.Ala255Pro
Search 100 bp 5'
Search 100 bp 3'