Canonical Allele Identifier: CA3605611

Gene: FLT4

Linked Data

• ClinVar Variation Id: 263057
• ClinVar RCV Id: RCV000247350 ; RCV001539446
• dbSNP Id: rs307821
• ExAC: 5:180030313 C / A
• gnomAD v2: 5-180030313-C-A
• gnomAD v3: 5-180603313-C-A
• gnomAD v4: 5-180603313-C-A
• MyVariant Identifiers: chr5:g.180030313C>A (hg19) ; chr5:g.180603313C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.180603313C>A , CM000667.2:g.180603313C>A	GRCh38
NC_000005.9:g.180030313C>A , CM000667.1:g.180030313C>A	GRCh37
NC_000005.8:g.179962919C>A	NCBI36
NG_011536.1:g.51312G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261937.11:c.3971G>T MANE Select	ENSP00000261937.6:p.Arg1324Leu
ENST00000261937.10:c.3971G>T	ENSP00000261937.6:p.Arg1324Leu
ENST00000502603.5:n.671G>T
NM_182925.4:c.3971G>T	NP_891555.2:p.Arg1324Leu
XM_011534477.1:c.4220G>T	XP_011532779.1:p.Arg1407Leu
XM_011534478.1:c.4202G>T	XP_011532780.1:p.Arg1401Leu
XM_011534479.1:c.*117G>T	XP_011532781.1:n.*117G>T
XM_011534482.1:c.3989G>T	XP_011532784.1:p.Arg1330Leu
XM_011534483.1:c.3911G>T	XP_011532785.1:p.Arg1304Leu
XM_011534484.1:c.3512G>T	XP_011532786.1:p.Arg1171Leu
XR_941095.1:n.4257G>T
XM_011534478.3:c.4202G>T	XP_011532780.1:p.Arg1401Leu
XM_011534484.2:c.3512G>T	XP_011532786.1:p.Arg1171Leu
XM_017009263.1:c.*117G>T	XP_016864752.1:n.*117G>T
XM_017009268.1:c.3893G>T	XP_016864757.1:p.Arg1298Leu
XR_001742050.2:n.4461G>T
NM_182925.5:c.3971G>T MANE Select	NP_891555.2:p.Arg1324Leu