Canonical Allele Identifier: CA118644
Gene: BLMH HGNC NCBI
COSMIC:
COSM3755373 (not active)
MyVariant.info:
GRCh38 chr17:g.30249058T>C
GRCh37 chr17:g.28576076T>C
Revel Score:
ENST00000261714 (MANE Select) 0.031
ENST00000394819 0.031
gnomAD v2:
17:28576076 T / C
gnomAD v3:
17:30249058 T / C
gnomAD v4:
chr17-30249058-T-C
Joint Max Group AF 0.34255814 (AMR)
Genomes Max Group AF 0.32775604 (NFE)
Exomes Max Group AF 0.34620338 (AMR)
ClinVar RCV:
RCV000007670
ClinVar Variation:
7248
dbSNP:
1050565
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30249058T>C , CM000679.2:g.30249058T>C GRCh38
NC_000017.10:g.28576076T>C , CM000679.1:g.28576076T>C GRCh37
NC_000017.9:g.25600202T>C NCBI36
NG_011440.1:g.47999A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261714.11:c.1327A>G MANE Select ENSP00000261714.6:p.Ile443Val
ENST00000261714.10:c.1327A>G ENSP00000261714.6:p.Ile443Val
ENST00000578090.5:c.*1001A>G ENSP00000462353.1:n.*1001A>G
ENST00000578795.1:n.1226A>G
NM_000386.3:c.1327A>G NP_000377.1:p.Ile443Val
XR_934653.1:n.701-729T>C
XR_934655.1:n.701-3016T>C
NM_000386.4:c.1327A>G MANE Select NP_000377.1:p.Ile443Val
Search 100 bp 5'
Search 100 bp 3'