Canonical Allele Identifier: CA387460872
Gene: GJB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189009G>C , CM000675.2:g.20189009G>C GRCh38
NC_000013.10:g.20763148G>C , CM000675.1:g.20763148G>C GRCh37
NC_000013.9:g.19661148G>C NCBI36
NG_008358.1:g.8967C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.573C>G ENSP00000372295.1:p.Phe191Leu
ENST00000382848.5:c.573C>G MANE Select ENSP00000372299.4:p.Phe191Leu
ENST00000382844.1:c.573C>G ENSP00000372295.1:p.Phe191Leu
ENST00000382848.4:c.573C>G ENSP00000372299.4:p.Phe191Leu
NM_004004.5:c.573C>G NP_003995.2:p.Phe191Leu
XM_011535049.1:c.573C>G XP_011533351.1:p.Phe191Leu
XM_011535049.2:c.573C>G XP_011533351.1:p.Phe191Leu
NM_004004.6:c.573C>G MANE Select NP_003995.2:p.Phe191Leu