Canonical Allele Identifier: CA362327313

Gene: F12 GRK6 SLC34A1

Linked Data

• ClinVar Variation Id: 906814
• ClinVar RCV Id: RCV001156239 ; RCV001156238
• dbSNP Id: rs1763214147
• gnomAD v3: 5-177403967-C-T
• gnomAD v4: 5-177403967-C-T
• COSMIC: COSM3661738
• MyVariant Identifiers: chr5:g.176830968C>T (hg19) ; chr5:g.177403967C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177403967C>T , CM000667.2:g.177403967C>T	GRCh38
NC_000005.9:g.176830968C>T , CM000667.1:g.176830968C>T	GRCh37
NC_000005.8:g.176763574C>T	NCBI36
NG_007568.1:g.10610G>A , LRG_145:g.10610G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*808G>A (F12)	ENSP00000512476.1:n.*808G>A
ENST00000696193.1:c.*1529G>A (F12)	ENSP00000512477.1:n.*1529G>A
ENST00000696194.1:c.*732G>A (F12)	ENSP00000512478.1:n.*732G>A
ENST00000696195.1:n.3945G>A (F12)
ENST00000696200.1:n.1245G>A (F12)
ENST00000696201.1:c.1142G>A (F12)	ENSP00000512482.1:p.Arg381His
ENST00000253496.4:c.1142G>A (F12) MANE Select	ENSP00000253496.3:p.Arg381His
ENST00000253496.3:c.1142G>A (F12)	ENSP00000253496.3:p.Arg381His
ENST00000502598.5:c.-45+441C>T (GRK6)	ENSP00000422873.1:n.-45+441C>T
ENST00000502854.5:n.401G>A (F12)
ENST00000503736.1:n.514G>A (F12)
ENST00000510358.5:n.506G>A (F12)
NM_000505.3:c.1142G>A , LRG_145t1:c.1142G>A (F12)	NP_000496.2:p.Arg381His
XM_011534461.1:c.1142G>A (F12)	XP_011532763.1:p.Arg381His
XM_011534462.1:c.806G>A (F12)	XP_011532764.1:p.Arg269His
XM_011534462.2:c.806G>A (F12)	XP_011532764.1:p.Arg269His
XM_017009773.2:c.1416+6893C>T (SLC34A1)	XP_016865262.1:n.1416+6893C>T
NM_000505.4:c.1142G>A (F12) MANE Select	NP_000496.2:p.Arg381His