Canonical Allele Identifier: CA754556
Gene: GJB4 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

dbSNP Id: rs199688130
ExAC: 1:35227196 C / T
gnomAD v2: 1-35227196-C-T
gnomAD v3: 1-34761595-C-T
gnomAD v4: 1-34761595-C-T
MyVariant Identifiers: chr1:g.35227196C>T (hg19) chr1:g.34761595C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34761595C>T , CM000663.2:g.34761595C>T GRCh38
NC_000001.10:g.35227196C>T , CM000663.1:g.35227196C>T GRCh37
NC_000001.9:g.34999783C>T NCBI36
NG_016243.1:g.6855C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000339480.3:c.341C>T (GJB4) MANE Select ENSP00000345868.1:p.Pro114Leu
ENST00000339480.1:c.341C>T (GJB4) ENSP00000345868.1:p.Pro114Leu
ENST00000426886.1:c.208-43186G>A (SMIM12) ENSP00000429902.1:n.208-43186G>A
NM_153212.2:c.341C>T (GJB4) NP_694944.1:p.Pro114Leu
XM_011540679.1:c.341C>T (GJB4) XP_011538981.1:p.Pro114Leu
XR_947179.1:n.1002-18146G>A
XM_011540679.2:c.341C>T (GJB4) XP_011538981.1:p.Pro114Leu
XR_001737967.1:n.1023+36776G>A
NM_153212.3:c.341C>T (GJB4) MANE Select NP_694944.1:p.Pro114Leu
Search 100 bp 5'
Search 100 bp 3'