Canonical Allele Identifier: CA357956417

Gene: BANK1

Linked Data

• gnomAD v3: 4-101918156-C-A
• gnomAD v4: 4-101918156-C-A
• MyVariant Identifiers: chr4:g.102839313C>A (hg19) ; chr4:g.101918156C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.101918156C>A , CM000666.2:g.101918156C>A	GRCh38
NC_000004.11:g.102839313C>A , CM000666.1:g.102839313C>A	GRCh37
NC_000004.10:g.103058336C>A	NCBI36
NG_015824.1:g.132550C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000322953.9:c.1173C>A MANE Select	ENSP00000320509.4:p.His391Gln
ENST00000322953.8:c.1173C>A	ENSP00000320509.4:p.His391Gln
ENST00000428908.5:c.774C>A	ENSP00000412748.1:p.His258Gln
ENST00000444316.2:c.1083C>A	ENSP00000388817.2:p.His361Gln
ENST00000504592.5:c.1128C>A	ENSP00000421443.1:p.His376Gln
ENST00000508653.5:c.774C>A	ENSP00000422314.1:p.His258Gln
NM_001083907.2:c.1083C>A	NP_001077376.2:p.His361Gln
NM_001127507.2:c.774C>A	NP_001120979.2:p.His258Gln
NM_017935.4:c.1173C>A	NP_060405.4:p.His391Gln
XM_017008337.2:c.1083C>A	XP_016863826.1:p.His361Gln
NM_017935.5:c.1173C>A MANE Select	NP_060405.5:p.His391Gln
NM_001083907.3:c.1083C>A	NP_001077376.3:p.His361Gln
NM_001127507.3:c.774C>A	NP_001120979.3:p.His258Gln