Canonical Allele Identifier: CA20545835

Linked Data

dbSNP Id: rs758502752

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34761514C>A , CM000663.2:g.34761514C>A GRCh38
NC_000001.10:g.35227115C>A , CM000663.1:g.35227115C>A GRCh37
NC_000001.9:g.34999702C>A NCBI36
NG_016243.1:g.6774C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000339480.3:c.260C>A (GJB4) MANE Select ENSP00000345868.1:p.Pro87His
ENST00000339480.1:c.260C>A (GJB4) ENSP00000345868.1:p.Pro87His
ENST00000426886.1:c.208-43105G>T (SMIM12) ENSP00000429902.1:n.208-43105G>T
NM_153212.2:c.260C>A (GJB4) NP_694944.1:p.Pro87His
XM_011540679.1:c.260C>A (GJB4) XP_011538981.1:p.Pro87His
XR_947179.1:n.1002-18065G>T
XM_011540679.2:c.260C>A (GJB4) XP_011538981.1:p.Pro87His
XR_001737967.1:n.1023+36857G>T
NM_153212.3:c.260C>A (GJB4) MANE Select NP_694944.1:p.Pro87His