Canonical Allele Identifier: CA339300633

Linked Data

gnomAD v4: 1-34761474-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34761474G>C , CM000663.2:g.34761474G>C GRCh38
NC_000001.10:g.35227075G>C , CM000663.1:g.35227075G>C GRCh37
NC_000001.9:g.34999662G>C NCBI36
NG_016243.1:g.6734G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000339480.3:c.220G>C (GJB4) MANE Select ENSP00000345868.1:p.Val74Leu
ENST00000339480.1:c.220G>C (GJB4) ENSP00000345868.1:p.Val74Leu
ENST00000426886.1:c.208-43065C>G (SMIM12) ENSP00000429902.1:n.208-43065C>G
NM_153212.2:c.220G>C (GJB4) NP_694944.1:p.Val74Leu
XM_011540679.1:c.220G>C (GJB4) XP_011538981.1:p.Val74Leu
XR_947179.1:n.1002-18025C>G
XM_011540679.2:c.220G>C (GJB4) XP_011538981.1:p.Val74Leu
XR_001737967.1:n.1023+36897C>G
NM_153212.3:c.220G>C (GJB4) MANE Select NP_694944.1:p.Val74Leu