Canonical Allele Identifier: CA400050391
Gene: TBX21 HGNC NCBI

Linked Data

dbSNP Id: rs2032309259
gnomAD v3: 17-47744806-C-T
gnomAD v4: 17-47744806-C-T
COSMIC: COSM5907705
MyVariant Identifiers: chr17:g.45822172C>T (hg19) chr17:g.47744806C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47744806C>T , CM000679.2:g.47744806C>T GRCh38
NC_000017.10:g.45822172C>T , CM000679.1:g.45822172C>T GRCh37
NC_000017.9:g.43177171C>T NCBI36
NG_012166.1:g.16563C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000177694.2:c.1048C>T MANE Select ENSP00000177694.1:p.Leu350Phe
ENST00000177694.1:c.1048C>T ENSP00000177694.1:p.Leu350Phe
NM_013351.1:c.1048C>T NP_037483.1:p.Leu350Phe
XM_011524698.1:c.1111C>T XP_011523000.1:p.Leu371Phe
XM_011524699.1:c.715C>T XP_011523001.1:p.Leu239Phe
NM_013351.2:c.1048C>T MANE Select NP_037483.1:p.Leu350Phe
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