Canonical Allele Identifier: CA103070475

Gene: BANK1

Linked Data

• dbSNP Id: rs184559529
• gnomAD v4: 4-101918114-G-A
• MyVariant Identifiers: chr4:g.102839271G>A (hg19) ; chr4:g.101918114G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.101918114G>A , CM000666.2:g.101918114G>A	GRCh38
NC_000004.11:g.102839271G>A , CM000666.1:g.102839271G>A	GRCh37
NC_000004.10:g.103058294G>A	NCBI36
NG_015824.1:g.132508G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322953.9:c.1131G>A MANE Select	ENSP00000320509.4:p.Met377Ile
ENST00000322953.8:c.1131G>A	ENSP00000320509.4:p.Met377Ile
ENST00000428908.5:c.732G>A	ENSP00000412748.1:p.Met244Ile
ENST00000444316.2:c.1041G>A	ENSP00000388817.2:p.Met347Ile
ENST00000504592.5:c.1086G>A	ENSP00000421443.1:p.Met362Ile
ENST00000508653.5:c.732G>A	ENSP00000422314.1:p.Met244Ile
NM_001083907.2:c.1041G>A	NP_001077376.2:p.Met347Ile
NM_001127507.2:c.732G>A	NP_001120979.2:p.Met244Ile
NM_017935.4:c.1131G>A	NP_060405.4:p.Met377Ile
XM_017008337.2:c.1041G>A	XP_016863826.1:p.Met347Ile
NM_017935.5:c.1131G>A MANE Select	NP_060405.5:p.Met377Ile
NM_001083907.3:c.1041G>A	NP_001077376.3:p.Met347Ile
NM_001127507.3:c.732G>A	NP_001120979.3:p.Met244Ile