Canonical Allele Identifier: CA1098517
Gene: TCHH HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.152110849A>C
GRCh37 chr1:g.152083325A>C
Revel Score:
ENST00000368804 0.053
gnomAD v2:
1:152083325 A / C
gnomAD v3:
1:152110849 A / C
gnomAD v4:
chr1-152110849-A-C
Joint Max Group AF 0.00000292 (NFE)
Exomes Max Group AF 0.00000262 (NFE)
dbSNP:
11803731
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152110849A>C , CM000663.2:g.152110849A>C GRCh38
NC_000001.10:g.152083325A>C , CM000663.1:g.152083325A>C GRCh37
NC_000001.9:g.150349949A>C NCBI36
NG_052960.1:g.9606T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000614923.2:c.2368T>G MANE Select ENSP00000480484.1:p.Leu790Val
ENST00000368804.5:c.2368T>G ENSP00000357794.1:p.Leu790Val
ENST00000614923.1:c.2368T>G ENSP00000480484.1:p.Leu790Val
NM_007113.3:c.2368T>G NP_009044.2:p.Leu790Val
NM_007113.4:c.2368T>G MANE Select NP_009044.2:p.Leu790Val
Search 100 bp 5'
Search 100 bp 3'