Canonical Allele Identifier: CA339300713

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34761486G>T , CM000663.2:g.34761486G>T GRCh38
NC_000001.10:g.35227087G>T , CM000663.1:g.35227087G>T GRCh37
NC_000001.9:g.34999674G>T NCBI36
NG_016243.1:g.6746G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000339480.3:c.232G>T (GJB4) MANE Select ENSP00000345868.1:p.Ala78Ser
ENST00000339480.1:c.232G>T (GJB4) ENSP00000345868.1:p.Ala78Ser
ENST00000426886.1:c.208-43077C>A (SMIM12) ENSP00000429902.1:n.208-43077C>A
NM_153212.2:c.232G>T (GJB4) NP_694944.1:p.Ala78Ser
XM_011540679.1:c.232G>T (GJB4) XP_011538981.1:p.Ala78Ser
XR_947179.1:n.1002-18037C>A
XM_011540679.2:c.232G>T (GJB4) XP_011538981.1:p.Ala78Ser
XR_001737967.1:n.1023+36885C>A
NM_153212.3:c.232G>T (GJB4) MANE Select NP_694944.1:p.Ala78Ser