Canonical Allele Identifier: CA339300850
Gene: GJB4 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

gnomAD v4: 1-34761504-G-C
MyVariant Identifiers: chr1:g.35227105G>C (hg19) chr1:g.34761504G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34761504G>C , CM000663.2:g.34761504G>C GRCh38
NC_000001.10:g.35227105G>C , CM000663.1:g.35227105G>C GRCh37
NC_000001.9:g.34999692G>C NCBI36
NG_016243.1:g.6764G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000339480.3:c.250G>C (GJB4) MANE Select ENSP00000345868.1:p.Val84Leu
ENST00000339480.1:c.250G>C (GJB4) ENSP00000345868.1:p.Val84Leu
ENST00000426886.1:c.208-43095C>G (SMIM12) ENSP00000429902.1:n.208-43095C>G
NM_153212.2:c.250G>C (GJB4) NP_694944.1:p.Val84Leu
XM_011540679.1:c.250G>C (GJB4) XP_011538981.1:p.Val84Leu
XR_947179.1:n.1002-18055C>G
XM_011540679.2:c.250G>C (GJB4) XP_011538981.1:p.Val84Leu
XR_001737967.1:n.1023+36867C>G
NM_153212.3:c.250G>C (GJB4) MANE Select NP_694944.1:p.Val84Leu
Search 100 bp 5'
Search 100 bp 3'