Canonical Allele Identifier: CA4834878
Gene: FZD6 HGNC NCBI
COSMIC:
COSM3762967 (not active)
MyVariant.info:
GRCh38 chr8:g.103325139A>C
GRCh37 chr8:g.104337367A>C
Revel Score:
ENST00000522566 0.197
ENST00000358755 (MANE Select) 0.197
ENST00000523739 0.197
ENST00000540287 0.197
ENST00000539487 0.197
gnomAD v2:
8:104337367 A / C
gnomAD v3:
8:103325139 A / C
gnomAD v4:
chr8-103325139-A-C
Joint Max Group AF 0.61350032 (EAS)
Genomes Max Group AF 0.59649385 (EAS)
Exomes Max Group AF 0.61380119 (EAS)
dbSNP:
3808553
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.103325139A>C , CM000670.2:g.103325139A>C GRCh38
NC_000008.10:g.104337367A>C , CM000670.1:g.104337367A>C GRCh37
NC_000008.9:g.104406543A>C NCBI36
NG_028909.1:g.31707A>C
NG_028909.2:g.29146A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000358755.5:c.1033A>C MANE Select ENSP00000351605.4:p.Met345Leu
ENST00000358755.4:c.1033A>C ENSP00000351605.4:p.Met345Leu
ENST00000519011.5:c.*80A>C ENSP00000427733.1:n.*80A>C
ENST00000521195.1:c.*968A>C ENSP00000428188.1:n.*968A>C
ENST00000522484.5:c.1033A>C ENSP00000428301.1:p.Met345Leu
ENST00000522566.5:c.1033A>C ENSP00000429055.1:p.Met345Leu
ENST00000523739.5:c.937A>C ENSP00000429528.1:p.Met313Leu
ENST00000523933.5:c.*80A>C ENSP00000428257.1:n.*80A>C
NM_001164615.1:c.1033A>C NP_001158087.1:p.Met345Leu
NM_001164616.1:c.937A>C NP_001158088.1:p.Met313Leu
NM_003506.3:c.1033A>C NP_003497.2:p.Met345Leu
XR_428385.2:n.1283A>C
NM_001317796.1:c.118A>C NP_001304725.1:p.Met40Leu
NR_133921.1:n.1350A>C
NM_003506.4:c.1033A>C MANE Select NP_003497.2:p.Met345Leu
NM_001164615.2:c.1033A>C NP_001158087.1:p.Met345Leu
NM_001164616.2:c.937A>C NP_001158088.1:p.Met313Leu
NM_001317796.2:c.118A>C NP_001304725.1:p.Met40Leu
NR_133921.2:n.1350A>C
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