Canonical Allele Identifier: CA4540697
Gene: CTAGE6 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.143756406T>C
GRCh37 chr7:g.143453499T>C
gnomAD v2:
7:143453499 T / C
gnomAD v3:
7:143756406 T / C
gnomAD v4:
chr7-143756406-T-C
Joint Max Group AF 0.00025818 (NFE)
Genomes Max Group AF 0.00048383 (NFE)
Exomes Max Group AF 0.00023696 (NFE)
ClinVar RCV:
RCV004193688
ClinVar Variation:
2357891
dbSNP:
756720979
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143756406T>C , CM000669.2:g.143756406T>C GRCh38
NC_000007.13:g.143453499T>C , CM000669.1:g.143453499T>C GRCh37
NC_000007.12:g.143084432T>C NCBI36
NG_065172.1:g.6345A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000470691.2:c.1253A>G MANE Select ENSP00000474388.1:p.Lys418Arg
NM_178561.4:c.1253A>G NP_848656.2:p.Lys418Arg
NM_178561.5:c.1253A>G MANE Select NP_848656.2:p.Lys418Arg
Search 100 bp 5'
Search 100 bp 3'