Canonical Allele Identifier: CA1099028

Gene: TCHH

Linked Data

• ClinVar Variation Id: 374835
• ClinVar RCV Id: RCV000415562
• dbSNP Id: rs201930497
• ExAC: 1:152084702 G / A
• gnomAD v2: 1-152084702-G-A
• gnomAD v3: 1-152112226-G-A
• gnomAD v4: 1-152112226-G-A
• MyVariant Identifiers: chr1:g.152084702G>A (hg19) ; chr1:g.152112226G>A (hg38)
• PubMed: PMID:27866708

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152112226G>A , CM000663.2:g.152112226G>A	GRCh38
NC_000001.10:g.152084702G>A , CM000663.1:g.152084702G>A	GRCh37
NC_000001.9:g.150351326G>A	NCBI36
NG_052960.1:g.8229C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000614923.2:c.991C>T MANE Select	ENSP00000480484.1:p.Gln331Ter
ENST00000368804.5:c.991C>T	ENSP00000357794.1:p.Gln331Ter
ENST00000614923.1:c.991C>T	ENSP00000480484.1:p.Gln331Ter
NM_007113.3:c.991C>T	NP_009044.2:p.Gln331Ter
NM_007113.4:c.991C>T MANE Select	NP_009044.2:p.Gln331Ter