Canonical Allele Identifier: CA7306254
Gene: TTC7B HGNC NCBI
TTC7B-AS1 HGNC NCBI
ClinVar RCV:
RCV004209154
ClinVar Variation:
2377766
dbSNP:
144953526
gnomAD v2:
14:91113320 G / C
gnomAD v3:
14:90646976 G / C
gnomAD v4:
chr14-90646976-G-C
Joint Max Group AF 0.00039414 (NFE)
Genomes Max Group AF 0.00044358 (NFE)
Exomes Max Group AF 0.00038404 (NFE)
MyVariant.info:
GRCh38 chr14:g.90646976G>C
GRCh37 chr14:g.91113320G>C
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.90646976G>C , CM000676.2:g.90646976G>C GRCh38
NC_000014.8:g.91113320G>C , CM000676.1:g.91113320G>C GRCh37
NC_000014.7:g.90183073G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000328459.11:c.1565C>G (TTC7B) MANE Select ENSP00000336127.4:p.Ala522Gly
ENST00000328459.10:c.1565C>G (TTC7B) ENSP00000336127.4:p.Ala522Gly
ENST00000555005.5:c.788C>G (TTC7B) ENSP00000451825.1:p.Ala263Gly
ENST00000555239.5:c.242C>G (TTC7B)
ENST00000556490.5:n.499C>G (TTC7B)
ENST00000556749.1:n.498C>G (TTC7B)
NM_001010854.1:c.1565C>G (TTC7B) NP_001010854.1:p.Ala522Gly
NR_110134.1:n.563G>C (TTC7B-AS1)
XM_005267367.1:c.791C>G (TTC7B) XP_005267424.1:p.Ala264Gly
XM_011536497.1:c.1259C>G (TTC7B) XP_011534799.1:p.Ala420Gly
XM_011536498.1:c.791C>G (TTC7B) XP_011534800.1:p.Ala264Gly
NM_001320421.1:c.1259C>G (TTC7B) NP_001307350.1:p.Ala420Gly
XM_017021044.2:c.1565C>G (TTC7B) XP_016876533.1:p.Ala522Gly
XM_017021045.2:c.1565C>G (TTC7B) XP_016876534.1:p.Ala522Gly
XM_017021046.1:c.1259C>G (TTC7B) XP_016876535.1:p.Ala420Gly
XM_017021047.1:c.791C>G (TTC7B) XP_016876536.1:p.Ala264Gly
NM_001010854.2:c.1565C>G (TTC7B) MANE Select NP_001010854.1:p.Ala522Gly
NM_001320421.2:c.1259C>G (TTC7B) NP_001307350.1:p.Ala420Gly
NM_001401365.1:c.1565C>G (TTC7B) NP_001388294.1:p.Ala522Gly
Search 100 bp 5'
Search 100 bp 3'