Canonical Allele Identifier: CA440606572

Gene: BANK1

Linked Data

• gnomAD v4: 4-101918030-T-C
• MyVariant Identifiers: chr4:g.102839187T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.101918030T>C , CM000666.2:g.101918030T>C	GRCh38
NC_000004.11:g.102839187T>C , CM000666.1:g.102839187T>C	GRCh37
NC_000004.10:g.103058210T>C	NCBI36
NG_015824.1:g.132424T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000322953.9:c.1047T>C MANE Select	ENSP00000320509.4:p.Cys349=
ENST00000322953.8:c.1047T>C	ENSP00000320509.4:p.Cys349=
ENST00000428908.5:c.648T>C	ENSP00000412748.1:p.Cys216=
ENST00000444316.2:c.957T>C	ENSP00000388817.2:p.Cys319=
ENST00000504592.5:c.1002T>C	ENSP00000421443.1:p.Cys334=
ENST00000508653.5:c.648T>C	ENSP00000422314.1:p.Cys216=
NM_001083907.2:c.957T>C	NP_001077376.2:p.Cys319=
NM_001127507.2:c.648T>C	NP_001120979.2:p.Cys216=
NM_017935.4:c.1047T>C	NP_060405.4:p.Cys349=
XM_017008337.2:c.957T>C	XP_016863826.1:p.Cys319=
NM_017935.5:c.1047T>C MANE Select	NP_060405.5:p.Cys349=
NM_001083907.3:c.957T>C	NP_001077376.3:p.Cys319=
NM_001127507.3:c.648T>C	NP_001120979.3:p.Cys216=