Canonical Allele Identifier: CA357955718

Gene: BANK1

Linked Data

• dbSNP Id: rs1213771996
• gnomAD v2: 4-102839164-G-T
• gnomAD v3: 4-101918007-G-T
• gnomAD v4: 4-101918007-G-T
• COSMIC: COSM4840232
• MyVariant Identifiers: chr4:g.102839164G>T (hg19) ; chr4:g.101918007G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.101918007G>T , CM000666.2:g.101918007G>T	GRCh38
NC_000004.11:g.102839164G>T , CM000666.1:g.102839164G>T	GRCh37
NC_000004.10:g.103058187G>T	NCBI36
NG_015824.1:g.132401G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322953.9:c.1024G>T MANE Select	ENSP00000320509.4:p.Glu342Ter
ENST00000322953.8:c.1024G>T	ENSP00000320509.4:p.Glu342Ter
ENST00000428908.5:c.625G>T	ENSP00000412748.1:p.Glu209Ter
ENST00000444316.2:c.934G>T	ENSP00000388817.2:p.Glu312Ter
ENST00000504592.5:c.979G>T	ENSP00000421443.1:p.Glu327Ter
ENST00000508653.5:c.625G>T	ENSP00000422314.1:p.Glu209Ter
NM_001083907.2:c.934G>T	NP_001077376.2:p.Glu312Ter
NM_001127507.2:c.625G>T	NP_001120979.2:p.Glu209Ter
NM_017935.4:c.1024G>T	NP_060405.4:p.Glu342Ter
XM_017008337.2:c.934G>T	XP_016863826.1:p.Glu312Ter
NM_017935.5:c.1024G>T MANE Select	NP_060405.5:p.Glu342Ter
NM_001083907.3:c.934G>T	NP_001077376.3:p.Glu312Ter
NM_001127507.3:c.625G>T	NP_001120979.3:p.Glu209Ter