Canonical Allele Identifier: CA735258054

Gene: GJB3 SMIM12

Linked Data

• dbSNP Id: rs1292269501
• gnomAD v3: 1-34781534-GCCC-G
• gnomAD v4: 1-34781534-GCCC-G
• MyVariant Identifiers: chr1:g.35247136_35247138del (hg19) ; chr1:g.34781535_34781537del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34781537_34781539del , CM000663.2:g.34781537_34781539del	GRCh38
NC_000001.10:g.35247138_35247140del , CM000663.1:g.35247138_35247140del	GRCh37
NC_000001.9:g.35019725_35019727del	NCBI36
NG_008309.1:g.5349_5351del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373366.3:c.-267_-265del (GJB3) MANE Select	ENSP00000362464.2:n.-267_-265del
ENST00000373366.2:c.-267_-265del (GJB3)	ENSP00000362464.2:n.-267_-265del
ENST00000426886.1:c.208-63128_208-63126del (SMIM12)	ENSP00000429902.1:n.208-63128_208-63126del
NM_024009.2:c.-267_-265del (GJB3)	NP_076872.1:n.-267_-265del
XR_947179.1:n.1001+16834_1001+16836del
XR_001737967.1:n.1023+16834_1023+16836del
NM_024009.3:c.-267_-265del (GJB3) MANE Select	NP_076872.1:n.-267_-265del