Canonical Allele Identifier: CA103059316

Gene: BANK1

Linked Data

• dbSNP Id: rs1004794209
• gnomAD v2: 4-102737230-T-C
• gnomAD v3: 4-101816073-T-C
• gnomAD v4: 4-101816073-T-C
• MyVariant Identifiers: chr4:g.102737230T>C (hg19) ; chr4:g.101816073T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.101816073T>C , CM000666.2:g.101816073T>C	GRCh38
NC_000004.11:g.102737230T>C , CM000666.1:g.102737230T>C	GRCh37
NC_000004.10:g.102956253T>C	NCBI36
NG_015824.1:g.30467T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322953.9:c.71-13735T>C MANE Select	ENSP00000320509.4:n.71-13735T>C
ENST00000322953.8:c.71-13735T>C	ENSP00000320509.4:n.71-13735T>C
ENST00000428908.5:c.70+25123T>C	ENSP00000412748.1:n.70+25123T>C
ENST00000444316.2:c.-21+2135T>C	ENSP00000388817.2:n.-21+2135T>C
ENST00000504592.5:c.26-13735T>C	ENSP00000421443.1:n.26-13735T>C
ENST00000508653.5:c.70+25123T>C	ENSP00000422314.1:n.70+25123T>C
NM_001083907.2:c.-21+2135T>C	NP_001077376.2:n.-21+2135T>C
NM_001127507.2:c.70+25123T>C	NP_001120979.2:n.70+25123T>C
NM_017935.4:c.71-13735T>C	NP_060405.4:n.71-13735T>C
XM_017008337.2:c.-20-13735T>C	XP_016863826.1:n.-20-13735T>C
NM_017935.5:c.71-13735T>C MANE Select	NP_060405.5:n.71-13735T>C
NM_001083907.3:c.-21+2135T>C	NP_001077376.3:n.-21+2135T>C
NM_001127507.3:c.70+25123T>C	NP_001120979.3:n.70+25123T>C