Canonical Allele Identifier: CA440606577

Gene: BANK1

Linked Data

• dbSNP Id: rs1308107552
• gnomAD v2: 4-102839190-A-C
• gnomAD v4: 4-101918033-A-C
• MyVariant Identifiers: chr4:g.102839190A>C (hg19) ; chr4:g.101918033A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.101918033A>C , CM000666.2:g.101918033A>C	GRCh38
NC_000004.11:g.102839190A>C , CM000666.1:g.102839190A>C	GRCh37
NC_000004.10:g.103058213A>C	NCBI36
NG_015824.1:g.132427A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000322953.9:c.1050A>C MANE Select	ENSP00000320509.4:p.Ala350=
ENST00000322953.8:c.1050A>C	ENSP00000320509.4:p.Ala350=
ENST00000428908.5:c.651A>C	ENSP00000412748.1:p.Ala217=
ENST00000444316.2:c.960A>C	ENSP00000388817.2:p.Ala320=
ENST00000504592.5:c.1005A>C	ENSP00000421443.1:p.Ala335=
ENST00000508653.5:c.651A>C	ENSP00000422314.1:p.Ala217=
NM_001083907.2:c.960A>C	NP_001077376.2:p.Ala320=
NM_001127507.2:c.651A>C	NP_001120979.2:p.Ala217=
NM_017935.4:c.1050A>C	NP_060405.4:p.Ala350=
XM_017008337.2:c.960A>C	XP_016863826.1:p.Ala320=
NM_017935.5:c.1050A>C MANE Select	NP_060405.5:p.Ala350=
NM_001083907.3:c.960A>C	NP_001077376.3:p.Ala320=
NM_001127507.3:c.651A>C	NP_001120979.3:p.Ala217=