Canonical Allele Identifier: CA357955910

Gene: BANK1

Linked Data

• gnomAD v4: 4-101918040-T-A
• MyVariant Identifiers: chr4:g.102839197T>A (hg19) ; chr4:g.101918040T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.101918040T>A , CM000666.2:g.101918040T>A	GRCh38
NC_000004.11:g.102839197T>A , CM000666.1:g.102839197T>A	GRCh37
NC_000004.10:g.103058220T>A	NCBI36
NG_015824.1:g.132434T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000322953.9:c.1057T>A MANE Select	ENSP00000320509.4:p.Phe353Ile
ENST00000322953.8:c.1057T>A	ENSP00000320509.4:p.Phe353Ile
ENST00000428908.5:c.658T>A	ENSP00000412748.1:p.Phe220Ile
ENST00000444316.2:c.967T>A	ENSP00000388817.2:p.Phe323Ile
ENST00000504592.5:c.1012T>A	ENSP00000421443.1:p.Phe338Ile
ENST00000508653.5:c.658T>A	ENSP00000422314.1:p.Phe220Ile
NM_001083907.2:c.967T>A	NP_001077376.2:p.Phe323Ile
NM_001127507.2:c.658T>A	NP_001120979.2:p.Phe220Ile
NM_017935.4:c.1057T>A	NP_060405.4:p.Phe353Ile
XM_017008337.2:c.967T>A	XP_016863826.1:p.Phe323Ile
NM_017935.5:c.1057T>A MANE Select	NP_060405.5:p.Phe353Ile
NM_001083907.3:c.967T>A	NP_001077376.3:p.Phe323Ile
NM_001127507.3:c.658T>A	NP_001120979.3:p.Phe220Ile