Canonical Allele Identifier: CA103070480

Gene: BANK1

Linked Data

• dbSNP Id: rs1044526576
• gnomAD v4: 4-101918150-T-C
• MyVariant Identifiers: chr4:g.102839307T>C (hg19) ; chr4:g.101918150T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.101918150T>C , CM000666.2:g.101918150T>C	GRCh38
NC_000004.11:g.102839307T>C , CM000666.1:g.102839307T>C	GRCh37
NC_000004.10:g.103058330T>C	NCBI36
NG_015824.1:g.132544T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322953.9:c.1167T>C MANE Select	ENSP00000320509.4:p.His389=
ENST00000322953.8:c.1167T>C	ENSP00000320509.4:p.His389=
ENST00000428908.5:c.768T>C	ENSP00000412748.1:p.His256=
ENST00000444316.2:c.1077T>C	ENSP00000388817.2:p.His359=
ENST00000504592.5:c.1122T>C	ENSP00000421443.1:p.His374=
ENST00000508653.5:c.768T>C	ENSP00000422314.1:p.His256=
NM_001083907.2:c.1077T>C	NP_001077376.2:p.His359=
NM_001127507.2:c.768T>C	NP_001120979.2:p.His256=
NM_017935.4:c.1167T>C	NP_060405.4:p.His389=
XM_017008337.2:c.1077T>C	XP_016863826.1:p.His359=
NM_017935.5:c.1167T>C MANE Select	NP_060405.5:p.His389=
NM_001083907.3:c.1077T>C	NP_001077376.3:p.His359=
NM_001127507.3:c.768T>C	NP_001120979.3:p.His256=