Canonical Allele Identifier: CA417248424
Gene: GJB4 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.35227071C>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34761470C>A , CM000663.2:g.34761470C>A GRCh38
NC_000001.10:g.35227071C>A , CM000663.1:g.35227071C>A GRCh37
NC_000001.9:g.34999658C>A NCBI36
NG_016243.1:g.6730C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000339480.3:c.216C>A (GJB4) MANE Select ENSP00000345868.1:p.Ser72=
ENST00000339480.1:c.216C>A (GJB4) ENSP00000345868.1:p.Ser72=
ENST00000426886.1:c.208-43061G>T (SMIM12) ENSP00000429902.1:n.208-43061G>T
NM_153212.2:c.216C>A (GJB4) NP_694944.1:p.Ser72=
XM_011540679.1:c.216C>A (GJB4) XP_011538981.1:p.Ser72=
XR_947179.1:n.1002-18021G>T
XM_011540679.2:c.216C>A (GJB4) XP_011538981.1:p.Ser72=
XR_001737967.1:n.1023+36901G>T
NM_153212.3:c.216C>A (GJB4) MANE Select NP_694944.1:p.Ser72=
Search 100 bp 5'
Search 100 bp 3'