Canonical Allele Identifier: CA339300181

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34761435C>G , CM000663.2:g.34761435C>G GRCh38
NC_000001.10:g.35227036C>G , CM000663.1:g.35227036C>G GRCh37
NC_000001.9:g.34999623C>G NCBI36
NG_016243.1:g.6695C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000339480.3:c.181C>G (GJB4) MANE Select ENSP00000345868.1:p.Pro61Ala
ENST00000339480.1:c.181C>G (GJB4) ENSP00000345868.1:p.Pro61Ala
ENST00000426886.1:c.208-43026G>C (SMIM12) ENSP00000429902.1:n.208-43026G>C
NM_153212.2:c.181C>G (GJB4) NP_694944.1:p.Pro61Ala
XM_011540679.1:c.181C>G (GJB4) XP_011538981.1:p.Pro61Ala
XR_947179.1:n.1002-17986G>C
XM_011540679.2:c.181C>G (GJB4) XP_011538981.1:p.Pro61Ala
XR_001737967.1:n.1023+36936G>C
NM_153212.3:c.181C>G (GJB4) MANE Select NP_694944.1:p.Pro61Ala