Canonical Allele Identifier: CA3025002

Gene: BANK1

Linked Data

• dbSNP Id: rs747333930
• ExAC: 4:102839170 C / A
• gnomAD v2: 4-102839170-C-A
• gnomAD v3: 4-101918013-C-A
• gnomAD v4: 4-101918013-C-A
• MyVariant Identifiers: chr4:g.102839170C>A (hg19) ; chr4:g.101918013C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.101918013C>A , CM000666.2:g.101918013C>A	GRCh38
NC_000004.11:g.102839170C>A , CM000666.1:g.102839170C>A	GRCh37
NC_000004.10:g.103058193C>A	NCBI36
NG_015824.1:g.132407C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000322953.9:c.1030C>A MANE Select	ENSP00000320509.4:p.Pro344Thr
ENST00000322953.8:c.1030C>A	ENSP00000320509.4:p.Pro344Thr
ENST00000428908.5:c.631C>A	ENSP00000412748.1:p.Pro211Thr
ENST00000444316.2:c.940C>A	ENSP00000388817.2:p.Pro314Thr
ENST00000504592.5:c.985C>A	ENSP00000421443.1:p.Pro329Thr
ENST00000508653.5:c.631C>A	ENSP00000422314.1:p.Pro211Thr
NM_001083907.2:c.940C>A	NP_001077376.2:p.Pro314Thr
NM_001127507.2:c.631C>A	NP_001120979.2:p.Pro211Thr
NM_017935.4:c.1030C>A	NP_060405.4:p.Pro344Thr
XM_017008337.2:c.940C>A	XP_016863826.1:p.Pro314Thr
NM_017935.5:c.1030C>A MANE Select	NP_060405.5:p.Pro344Thr
NM_001083907.3:c.940C>A	NP_001077376.3:p.Pro314Thr
NM_001127507.3:c.631C>A	NP_001120979.3:p.Pro211Thr