Canonical Allele Identifier: CA10293856
Gene: CELSR1 HGNC NCBI
COSMIC:
COSM4984898 (not active)
MyVariant.info:
GRCh38 chr22:g.46390418T>C
GRCh37 chr22:g.46786315T>C
Revel Score:
ENST00000262738 0.021
gnomAD v2:
22:46786315 T / C
gnomAD v3:
22:46390418 T / C
gnomAD v4:
chr22-46390418-T-C
Joint Max Group AF 0.64942332 (AFR)
Genomes Max Group AF 0.64302073 (AFR)
Exomes Max Group AF 0.65288716 (AFR)
ClinVar RCV:
RCV001667798
RCV003968453
ClinVar Variation:
1264263
dbSNP:
4044210
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.46390418T>C , CM000684.2:g.46390418T>C GRCh38
NC_000022.10:g.46786315T>C , CM000684.1:g.46786315T>C GRCh37
NC_000022.9:g.45164979T>C NCBI36
NG_030466.1:g.151753A>G
NG_030466.2:g.151753A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262738.9:c.6319A>G ENSP00000262738.3:p.Ile2107Val
ENST00000674341.1:n.1396A>G
ENST00000674500.2:c.6319A>G MANE Select ENSP00000501367.2:p.Ile2107Val
ENST00000262738.7:c.6319A>G ENSP00000262738.3:p.Ile2107Val
NM_014246.1:c.6319A>G NP_055061.1:p.Ile2107Val
XM_006724383.2:c.6319A>G XP_006724446.1:p.Ile2107Val
XM_011530554.1:c.2812A>G XP_011528856.1:p.Ile938Val
XM_011530555.1:c.2716A>G XP_011528857.1:p.Ile906Val
XM_006724383.3:c.6319A>G XP_006724446.1:p.Ile2107Val
XM_011530554.2:c.2812A>G XP_011528856.1:p.Ile938Val
XM_011530555.2:c.2716A>G XP_011528857.1:p.Ile906Val
NM_014246.2:c.6319A>G NP_055061.1:p.Ile2107Val
NM_014246.3:c.6319A>G NP_055061.1:p.Ile2107Val
NM_001378328.1:c.6319A>G MANE Select NP_001365257.1:p.Ile2107Val
NM_014246.4:c.6319A>G NP_055061.1:p.Ile2107Val
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