Canonical Allele Identifier: CA499889284
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 1538813
ClinVar RCV Id: RCV002162186
dbSNP Id: rs1314875137
gnomAD v3: 17-39665995-C-G
gnomAD v4: 17-39665995-C-G
MyVariant Identifiers: chr17:g.37822248C>G (hg19) chr17:g.39665995C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665995C>G , CM000679.2:g.39665995C>G GRCh38
NC_000017.10:g.37822248C>G , CM000679.1:g.37822248C>G GRCh37
NC_000017.9:g.35075774C>G NCBI36
NG_008892.1:g.5650C>G , LRG_210:g.5650C>G
NG_042278.1:g.3015C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.390C>G MANE Select ENSP00000312624.2:p.Arg130=
ENST00000309889.2:c.390C>G ENSP00000312624.2:p.Arg130=
ENST00000578283.1:c.318C>G ENSP00000462787.1:p.Arg106=
NM_003673.3:c.390C>G , LRG_210t1:c.390C>G NP_003664.1:p.Arg130=
NM_003673.4:c.390C>G MANE Select NP_003664.1:p.Arg130=
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