Canonical Allele Identifier: CA357956420

Gene: BANK1

Linked Data

• dbSNP Id: rs1722889258
• gnomAD v4: 4-101918157-A-G
• MyVariant Identifiers: chr4:g.102839314A>G (hg19) ; chr4:g.101918157A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.101918157A>G , CM000666.2:g.101918157A>G	GRCh38
NC_000004.11:g.102839314A>G , CM000666.1:g.102839314A>G	GRCh37
NC_000004.10:g.103058337A>G	NCBI36
NG_015824.1:g.132551A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322953.9:c.1174A>G MANE Select	ENSP00000320509.4:p.Lys392Glu
ENST00000322953.8:c.1174A>G	ENSP00000320509.4:p.Lys392Glu
ENST00000428908.5:c.775A>G	ENSP00000412748.1:p.Lys259Glu
ENST00000444316.2:c.1084A>G	ENSP00000388817.2:p.Lys362Glu
ENST00000504592.5:c.1129A>G	ENSP00000421443.1:p.Lys377Glu
ENST00000508653.5:c.775A>G	ENSP00000422314.1:p.Lys259Glu
NM_001083907.2:c.1084A>G	NP_001077376.2:p.Lys362Glu
NM_001127507.2:c.775A>G	NP_001120979.2:p.Lys259Glu
NM_017935.4:c.1174A>G	NP_060405.4:p.Lys392Glu
XM_017008337.2:c.1084A>G	XP_016863826.1:p.Lys362Glu
NM_017935.5:c.1174A>G MANE Select	NP_060405.5:p.Lys392Glu
NM_001083907.3:c.1084A>G	NP_001077376.3:p.Lys362Glu
NM_001127507.3:c.775A>G	NP_001120979.3:p.Lys259Glu