Canonical Allele Identifier: CA8532836
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 1959038
ClinVar RCV Id: RCV002701078
dbSNP Id: rs372049483
ExAC: 17:37821735 C / A
gnomAD v2: 17-37821735-C-A
gnomAD v3: 17-39665482-C-A
gnomAD v4: 17-39665482-C-A
MyVariant Identifiers: chr17:g.37821735C>A (hg19) chr17:g.39665482C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665482C>A , CM000679.2:g.39665482C>A GRCh38
NC_000017.10:g.37821735C>A , CM000679.1:g.37821735C>A GRCh37
NC_000017.9:g.35075261C>A NCBI36
NG_008892.1:g.5137C>A , LRG_210:g.5137C>A
NG_042278.1:g.2502C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.110+13C>A MANE Select ENSP00000312624.2:n.110+13C>A
ENST00000309889.2:c.110+13C>A ENSP00000312624.2:n.110+13C>A
ENST00000578283.1:c.110+13C>A ENSP00000462787.1:n.110+13C>A
NM_003673.3:c.110+13C>A , LRG_210t1:c.110+13C>A NP_003664.1:n.110+13C>A
NM_003673.4:c.110+13C>A MANE Select NP_003664.1:n.110+13C>A
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