Linked Data
ClinVar Variation Id:
1250735
ClinVar RCV Id:
RCV001655088
dbSNP Id:
rs76188300
ExAC:
1:35227041 C / T
gnomAD v2:
1-35227041-C-T
gnomAD v3:
1-34761440-C-T
gnomAD v4:
1-34761440-C-T
COSMIC:
COSM3746943
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.34761440C>T , CM000663.2:g.34761440C>T | GRCh38 |
| NC_000001.10:g.35227041C>T , CM000663.1:g.35227041C>T | GRCh37 |
| NC_000001.9:g.34999628C>T | NCBI36 |
| NG_016243.1:g.6700C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339480.3:c.186C>T (GJB4) MANE Select | ENSP00000345868.1:p.Asn62= | |
| ENST00000339480.1:c.186C>T (GJB4) | ENSP00000345868.1:p.Asn62= | |
| ENST00000426886.1:c.208-43031G>A (SMIM12) | ENSP00000429902.1:n.208-43031G>A | |
| NM_153212.2:c.186C>T (GJB4) | NP_694944.1:p.Asn62= | |
| XM_011540679.1:c.186C>T (GJB4) | XP_011538981.1:p.Asn62= | |
| XR_947179.1:n.1002-17991G>A | ||
| XM_011540679.2:c.186C>T (GJB4) | XP_011538981.1:p.Asn62= | |
| XR_001737967.1:n.1023+36931G>A | ||
| NM_153212.3:c.186C>T (GJB4) MANE Select | NP_694944.1:p.Asn62= |