Canonical Allele Identifier: CA3025032

Gene: BANK1

Linked Data

• dbSNP Id: rs189221864
• ExAC: 4:102839303 G / T
• gnomAD v2: 4-102839303-G-T
• gnomAD v3: 4-101918146-G-T
• gnomAD v4: 4-101918146-G-T
• MyVariant Identifiers: chr4:g.102839303G>T (hg19) ; chr4:g.101918146G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.101918146G>T , CM000666.2:g.101918146G>T	GRCh38
NC_000004.11:g.102839303G>T , CM000666.1:g.102839303G>T	GRCh37
NC_000004.10:g.103058326G>T	NCBI36
NG_015824.1:g.132540G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322953.9:c.1163G>T MANE Select	ENSP00000320509.4:p.Arg388Met
ENST00000322953.8:c.1163G>T	ENSP00000320509.4:p.Arg388Met
ENST00000428908.5:c.764G>T	ENSP00000412748.1:p.Arg255Met
ENST00000444316.2:c.1073G>T	ENSP00000388817.2:p.Arg358Met
ENST00000504592.5:c.1118G>T	ENSP00000421443.1:p.Arg373Met
ENST00000508653.5:c.764G>T	ENSP00000422314.1:p.Arg255Met
NM_001083907.2:c.1073G>T	NP_001077376.2:p.Arg358Met
NM_001127507.2:c.764G>T	NP_001120979.2:p.Arg255Met
NM_017935.4:c.1163G>T	NP_060405.4:p.Arg388Met
XM_017008337.2:c.1073G>T	XP_016863826.1:p.Arg358Met
NM_017935.5:c.1163G>T MANE Select	NP_060405.5:p.Arg388Met
NM_001083907.3:c.1073G>T	NP_001077376.3:p.Arg358Met
NM_001127507.3:c.764G>T	NP_001120979.3:p.Arg255Met