Canonical Allele Identifier: CA357955740

Gene: BANK1

Linked Data

• dbSNP Id: rs1245831913
• gnomAD v2: 4-102839167-C-A
• gnomAD v3: 4-101918010-C-A
• gnomAD v4: 4-101918010-C-A
• MyVariant Identifiers: chr4:g.102839167C>A (hg19) ; chr4:g.101918010C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.101918010C>A , CM000666.2:g.101918010C>A	GRCh38
NC_000004.11:g.102839167C>A , CM000666.1:g.102839167C>A	GRCh37
NC_000004.10:g.103058190C>A	NCBI36
NG_015824.1:g.132404C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000322953.9:c.1027C>A MANE Select	ENSP00000320509.4:p.Leu343Ile
ENST00000322953.8:c.1027C>A	ENSP00000320509.4:p.Leu343Ile
ENST00000428908.5:c.628C>A	ENSP00000412748.1:p.Leu210Ile
ENST00000444316.2:c.937C>A	ENSP00000388817.2:p.Leu313Ile
ENST00000504592.5:c.982C>A	ENSP00000421443.1:p.Leu328Ile
ENST00000508653.5:c.628C>A	ENSP00000422314.1:p.Leu210Ile
NM_001083907.2:c.937C>A	NP_001077376.2:p.Leu313Ile
NM_001127507.2:c.628C>A	NP_001120979.2:p.Leu210Ile
NM_017935.4:c.1027C>A	NP_060405.4:p.Leu343Ile
XM_017008337.2:c.937C>A	XP_016863826.1:p.Leu313Ile
NM_017935.5:c.1027C>A MANE Select	NP_060405.5:p.Leu343Ile
NM_001083907.3:c.937C>A	NP_001077376.3:p.Leu313Ile
NM_001127507.3:c.628C>A	NP_001120979.3:p.Leu210Ile