Canonical Allele Identifier: CA3024752
Gene: BANK1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.101829919G>T
GRCh37 chr4:g.102751076G>T
Revel Score:
ENST00000504592 0.067
ENST00000322953 (MANE Select) 0.067
ENST00000444316 0.067
gnomAD v2:
4:102751076 G / T
gnomAD v3:
4:101829919 G / T
gnomAD v4:
chr4-101829919-G-T
Joint Max Group AF 0.00001775 (EAS)
Exomes Max Group AF 0.0000099 (AFR)
dbSNP:
10516487
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000322953.9:c.182G>T MANE Select ENSP00000320509.4:p.Arg61Leu
ENST00000322953.8:c.182G>T ENSP00000320509.4:p.Arg61Leu
ENST00000428908.5:c.71-25116G>T ENSP00000412748.1:n.71-25116G>T
ENST00000444316.2:c.92G>T ENSP00000388817.2:p.Arg31Leu
ENST00000504592.5:c.137G>T ENSP00000421443.1:p.Arg46Leu
ENST00000508653.5:c.71-25116G>T ENSP00000422314.1:n.71-25116G>T
NM_001083907.2:c.92G>T NP_001077376.2:p.Arg31Leu
NM_001127507.2:c.71-25116G>T NP_001120979.2:n.71-25116G>T
NM_017935.4:c.182G>T NP_060405.4:p.Arg61Leu
XM_017008337.2:c.92G>T XP_016863826.1:p.Arg31Leu
NM_017935.5:c.182G>T MANE Select NP_060405.5:p.Arg61Leu
NM_001083907.3:c.92G>T NP_001077376.3:p.Arg31Leu
NM_001127507.3:c.71-25116G>T NP_001120979.3:n.71-25116G>T
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