Canonical Allele Identifier: CA4517598

Gene: AGK

Linked Data

• ClinVar Variation Id: 381287
• ClinVar RCV Id: RCV000420947 ; RCV001162743 ; RCV001162744 ; RCV002519520
• dbSNP Id: rs201052151
• ExAC: 7:141341213 G / A
• gnomAD v2: 7-141341213-G-A
• gnomAD v3: 7-141641413-G-A
• gnomAD v4: 7-141641413-G-A
• MyVariant Identifiers: chr7:g.141341213G>A (hg19) ; chr7:g.141641413G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.141641413G>A , CM000669.2:g.141641413G>A	GRCh38
NC_000007.13:g.141341213G>A , CM000669.1:g.141341213G>A	GRCh37
NC_000007.12:g.140987682G>A	NCBI36
NG_032079.1:g.95136G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647568.1:c.*840+15G>A	ENSP00000497039.1:n.*840+15G>A
ENST00000648068.1:c.877+15G>A	ENSP00000498112.1:n.877+15G>A
ENST00000648395.1:c.601+15G>A	ENSP00000497666.1:n.601+15G>A
ENST00000648489.1:n.908+15G>A
ENST00000649014.1:c.*152+15G>A	ENSP00000497984.1:n.*152+15G>A
ENST00000649286.2:c.877+15G>A MANE Select	ENSP00000497280.1:n.877+15G>A
ENST00000649365.1:c.*885+15G>A	ENSP00000496835.1:n.*885+15G>A
ENST00000649790.1:c.*313+15G>A	ENSP00000498193.1:n.*313+15G>A
ENST00000649914.1:c.865+15G>A	ENSP00000497848.1:n.865+15G>A
ENST00000650006.1:c.877+15G>A	ENSP00000497457.1:n.877+15G>A
ENST00000650365.1:c.*762+15G>A	ENSP00000497358.1:n.*762+15G>A
ENST00000650547.1:c.877+15G>A	ENSP00000496789.1:n.877+15G>A
ENST00000355413.8:c.877+15G>A	ENSP00000347581.4:n.877+15G>A
ENST00000473247.5:c.793+15G>A	ENSP00000420776.1:n.793+15G>A
ENST00000494688.1:c.718-398G>A	ENSP00000418101.1:n.718-398G>A
ENST00000629555.2:c.718-398G>A	ENSP00000487274.1:n.718-398G>A
NM_018238.3:c.877+15G>A	NP_060708.1:n.877+15G>A
XM_005250023.3:c.877+15G>A	XP_005250080.1:n.877+15G>A
XM_011516397.1:c.877+15G>A	XP_011514699.1:n.877+15G>A
NM_001364948.1:c.877+15G>A	NP_001351877.1:n.877+15G>A
NM_018238.4:c.877+15G>A MANE Select	NP_060708.1:n.877+15G>A
XM_011516397.3:c.877+15G>A	XP_011514699.1:n.877+15G>A
XM_024446835.1:c.877+15G>A	XP_024302603.1:n.877+15G>A
NM_001364948.2:c.877+15G>A	NP_001351877.1:n.877+15G>A
NM_001364948.3:c.877+15G>A	NP_001351877.1:n.877+15G>A