Canonical Allele Identifier: CA210675
Gene: BANK1 HGNC NCBI
COSMIC:
COSM3736328 (not active)
MyVariant.info:
GRCh38 chr4:g.101829919G>A
GRCh37 chr4:g.102751076G>A
Revel Score:
ENST00000504592 0.077
ENST00000322953 (MANE Select) 0.077
ENST00000444316 0.077
gnomAD v2:
4:102751076 G / A
gnomAD v3:
4:101829919 G / A
gnomAD v4:
chr4-101829919-G-A
Joint Max Group AF 0.30742506 (NFE)
Genomes Max Group AF 0.29492357 (NFE)
Exomes Max Group AF 0.30800445 (NFE)
ClinVar RCV:
RCV003328146
ClinVar Variation:
1269
dbSNP:
10516487
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.101829919G>A , CM000666.2:g.101829919G>A GRCh38
NC_000004.11:g.102751076G>A , CM000666.1:g.102751076G>A GRCh37
NC_000004.10:g.102970099G>A NCBI36
NG_015824.1:g.44313G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322953.9:c.182G>A MANE Select ENSP00000320509.4:p.Arg61His
ENST00000322953.8:c.182G>A ENSP00000320509.4:p.Arg61His
ENST00000428908.5:c.71-25116G>A ENSP00000412748.1:n.71-25116G>A
ENST00000444316.2:c.92G>A ENSP00000388817.2:p.Arg31His
ENST00000504592.5:c.137G>A ENSP00000421443.1:p.Arg46His
ENST00000508653.5:c.71-25116G>A ENSP00000422314.1:n.71-25116G>A
NM_001083907.2:c.92G>A NP_001077376.2:p.Arg31His
NM_001127507.2:c.71-25116G>A NP_001120979.2:n.71-25116G>A
NM_017935.4:c.182G>A NP_060405.4:p.Arg61His
XM_017008337.2:c.92G>A XP_016863826.1:p.Arg31His
NM_017935.5:c.182G>A MANE Select NP_060405.5:p.Arg61His
NM_001083907.3:c.92G>A NP_001077376.3:p.Arg31His
NM_001127507.3:c.71-25116G>A NP_001120979.3:n.71-25116G>A
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