Canonical Allele Identifier: CA357956459

Gene: BANK1

Linked Data

• gnomAD v4: 4-101918173-T-C
• MyVariant Identifiers: chr4:g.102839330T>C (hg19) ; chr4:g.101918173T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.101918173T>C , CM000666.2:g.101918173T>C	GRCh38
NC_000004.11:g.102839330T>C , CM000666.1:g.102839330T>C	GRCh37
NC_000004.10:g.103058353T>C	NCBI36
NG_015824.1:g.132567T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322953.9:c.1190T>C MANE Select	ENSP00000320509.4:p.Ile397Thr
ENST00000322953.8:c.1190T>C	ENSP00000320509.4:p.Ile397Thr
ENST00000428908.5:c.791T>C	ENSP00000412748.1:p.Ile264Thr
ENST00000444316.2:c.1100T>C	ENSP00000388817.2:p.Ile367Thr
ENST00000504592.5:c.1145T>C	ENSP00000421443.1:p.Ile382Thr
ENST00000508653.5:c.791T>C	ENSP00000422314.1:p.Ile264Thr
NM_001083907.2:c.1100T>C	NP_001077376.2:p.Ile367Thr
NM_001127507.2:c.791T>C	NP_001120979.2:p.Ile264Thr
NM_017935.4:c.1190T>C	NP_060405.4:p.Ile397Thr
XM_017008337.2:c.1100T>C	XP_016863826.1:p.Ile367Thr
NM_017935.5:c.1190T>C MANE Select	NP_060405.5:p.Ile397Thr
NM_001083907.3:c.1100T>C	NP_001077376.3:p.Ile367Thr
NM_001127507.3:c.791T>C	NP_001120979.3:p.Ile264Thr