Canonical Allele Identifier: CA2273823
Gene: COL6A4P1 HGNC NCBI
COSMIC:
COSN15630209 (not active)
COSN15634791 (not active)
COSN15635617 (not active)
COSN15638138 (not active)
COSN15639862 (not active)
COSN15643993 (not active)
COSN15645643 (not active)
COSN15646464 (not active)
MyVariant.info:
GRCh38 chr3:g.15175196A>T
GRCh37 chr3:g.15216703A>T
gnomAD v2:
3:15216703 A / T
gnomAD v3:
3:15175196 A / T
gnomAD v4:
chr3-15175196-A-T
Joint Max Group AF 0.47715215 (EAS)
Genomes Max Group AF 0.47385704 (EAS)
Exomes Max Group AF 0.47319115 (EAS)
dbSNP:
11718863
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15175196A>T , CM000665.2:g.15175196A>T GRCh38
NC_000003.11:g.15216703A>T , CM000665.1:g.15216703A>T GRCh37
NC_000003.10:g.15191707A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000446690.2:n.1008T>A
ENST00000487147.5:n.832T>A
NR_027927.1:n.1008T>A
Search 100 bp 5'
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