Canonical Allele Identifier: CA417248405
Gene: GJB4 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

gnomAD v4: 1-34761461-C-T
MyVariant Identifiers: chr1:g.35227062C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34761461C>T , CM000663.2:g.34761461C>T GRCh38
NC_000001.10:g.35227062C>T , CM000663.1:g.35227062C>T GRCh37
NC_000001.9:g.34999649C>T NCBI36
NG_016243.1:g.6721C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000339480.3:c.207C>T (GJB4) MANE Select ENSP00000345868.1:p.Phe69=
ENST00000339480.1:c.207C>T (GJB4) ENSP00000345868.1:p.Phe69=
ENST00000426886.1:c.208-43052G>A (SMIM12) ENSP00000429902.1:n.208-43052G>A
NM_153212.2:c.207C>T (GJB4) NP_694944.1:p.Phe69=
XM_011540679.1:c.207C>T (GJB4) XP_011538981.1:p.Phe69=
XR_947179.1:n.1002-18012G>A
XM_011540679.2:c.207C>T (GJB4) XP_011538981.1:p.Phe69=
XR_001737967.1:n.1023+36910G>A
NM_153212.3:c.207C>T (GJB4) MANE Select NP_694944.1:p.Phe69=
Search 100 bp 5'
Search 100 bp 3'