Canonical Allele Identifier: CA3024780
Gene: BANK1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.101830062A>C
GRCh37 chr4:g.102751219A>C
Revel Score:
ENST00000504592 0.025
ENST00000322953 (MANE Select) 0.025
ENST00000444316 0.025
gnomAD v2:
4:102751219 A / C
gnomAD v3:
4:101830062 A / C
gnomAD v4:
chr4-101830062-A-C
Joint Max Group AF 0.00041316 (AFR)
Genomes Max Group AF 0.00047797 (AFR)
Exomes Max Group AF 0.00022958 (AFR)
ClinVar RCV:
RCV004091105
ClinVar Variation:
2226464
dbSNP:
369391063
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.101830062A>C , CM000666.2:g.101830062A>C GRCh38
NC_000004.11:g.102751219A>C , CM000666.1:g.102751219A>C GRCh37
NC_000004.10:g.102970242A>C NCBI36
NG_015824.1:g.44456A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322953.9:c.325A>C MANE Select ENSP00000320509.4:p.Lys109Gln
ENST00000322953.8:c.325A>C ENSP00000320509.4:p.Lys109Gln
ENST00000428908.5:c.71-24973A>C ENSP00000412748.1:n.71-24973A>C
ENST00000444316.2:c.235A>C ENSP00000388817.2:p.Lys79Gln
ENST00000504592.5:c.280A>C ENSP00000421443.1:p.Lys94Gln
ENST00000508653.5:c.71-24973A>C ENSP00000422314.1:n.71-24973A>C
NM_001083907.2:c.235A>C NP_001077376.2:p.Lys79Gln
NM_001127507.2:c.71-24973A>C NP_001120979.2:n.71-24973A>C
NM_017935.4:c.325A>C NP_060405.4:p.Lys109Gln
XM_017008337.2:c.235A>C XP_016863826.1:p.Lys79Gln
NM_017935.5:c.325A>C MANE Select NP_060405.5:p.Lys109Gln
NM_001083907.3:c.235A>C NP_001077376.3:p.Lys79Gln
NM_001127507.3:c.71-24973A>C NP_001120979.3:n.71-24973A>C
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