Canonical Allele Identifier: CA8158911
Gene: HP HGNC NCBI
TXNL4B HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.72054562A>C
GRCh37 chr16:g.72088461A>C
gnomAD v2:
16:72088461 A / C
gnomAD v3:
16:72054562 A / C
gnomAD v4:
chr16-72054562-A-C
Joint Max Group AF 0.12468973 (AFR)
Genomes Max Group AF 0.1234096 (AFR)
Exomes Max Group AF 0.12432334 (AFR)
ClinVar RCV:
RCV000017248
ClinVar Variation:
15901
dbSNP:
5471
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72054562A>C , CM000678.2:g.72054562A>C GRCh38
NC_000016.9:g.72088461A>C , CM000678.1:g.72088461A>C GRCh37
NC_000016.8:g.70645962A>C NCBI36
NG_012651.1:g.4954A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355906.10:c.-91A>C (HP) MANE Select ENSP00000348170.5:n.-91A>C
ENST00000562153.5:c.285-10205T>G (TXNL4B) ENSP00000454635.1:n.285-10205T>G
XM_017023377.2:c.285-10205T>G (TXNL4B) XP_016878866.1:n.285-10205T>G
NM_001318138.2:c.-91A>C (HP) NP_001305067.1:n.-91A>C
NM_005143.5:c.-91A>C (HP) MANE Select NP_005134.1:n.-91A>C
NM_001126102.3:c.-91A>C (HP) NP_001119574.1:n.-91A>C
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