Canonical Allele Identifier: CA211914
Gene: BHLHA9 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.1270787G>T
GRCh37 chr17:g.1174081G>T
Revel Score:
ENST00000391429 (MANE Select) 0.978
gnomAD v2:
17:1174081 G / T
gnomAD v4:
chr17-1270787-G-T
Joint Max Group AF 3e-7 (NFE)
Exomes Max Group AF 3.2e-7 (NFE)
ClinVar RCV:
RCV000149488
ClinVar Variation:
162067
dbSNP:
672601339
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1270787G>T , CM000679.2:g.1270787G>T GRCh38
NC_000017.10:g.1174081G>T , CM000679.1:g.1174081G>T GRCh37
NC_000017.9:g.1120831G>T NCBI36
NG_042055.1:g.5224G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000391429.2:c.224G>T MANE Select ENSP00000375248.1:p.Arg75Leu
ENST00000391429.1:c.224G>T ENSP00000375248.1:p.Arg75Leu
NM_001164405.1:c.224G>T NP_001157877.1:p.Arg75Leu
NM_001164405.2:c.224G>T MANE Select NP_001157877.1:p.Arg75Leu
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