Canonical Allele Identifier: CA129144
Gene: FZD6 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.103329863G>T , CM000670.2:g.103329863G>T GRCh38
NC_000008.10:g.104342091G>T , CM000670.1:g.104342091G>T GRCh37
NC_000008.9:g.104411267G>T NCBI36
NG_028909.1:g.36431G>T
NG_028909.2:g.33870G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000358755.5:c.1750G>T MANE Select ENSP00000351605.4:p.Glu584Ter
ENST00000358755.4:c.1750G>T ENSP00000351605.4:p.Glu584Ter
ENST00000519011.5:c.*797G>T ENSP00000427733.1:n.*797G>T
ENST00000521195.1:c.*1685G>T ENSP00000428188.1:n.*1685G>T
ENST00000522484.5:c.*197G>T ENSP00000428301.1:n.*197G>T
ENST00000522566.5:c.1750G>T ENSP00000429055.1:p.Glu584Ter
ENST00000523739.5:c.1654G>T ENSP00000429528.1:p.Glu552Ter
ENST00000523933.5:c.*797G>T ENSP00000428257.1:n.*797G>T
NM_001164615.1:c.1750G>T NP_001158087.1:p.Glu584Ter
NM_001164616.1:c.1654G>T NP_001158088.1:p.Glu552Ter
NM_003506.3:c.1750G>T NP_003497.2:p.Glu584Ter
XR_428385.2:n.1851G>T
NM_001317796.1:c.835G>T NP_001304725.1:p.Glu279Ter
NR_133921.1:n.1918G>T
NM_003506.4:c.1750G>T MANE Select NP_003497.2:p.Glu584Ter
NM_001164615.2:c.1750G>T NP_001158087.1:p.Glu584Ter
NM_001164616.2:c.1654G>T NP_001158088.1:p.Glu552Ter
NM_001317796.2:c.835G>T NP_001304725.1:p.Glu279Ter
NR_133921.2:n.1918G>T