Canonical Allele Identifier: CA760834436

Gene: RAPGEF4

Linked Data

• dbSNP Id: rs4972527
• gnomAD v3: 2-173050279-G-T
• gnomAD v4: 2-173050279-G-T
• MyVariant Identifiers: chr2:g.173915007G>T (hg19) ; chr2:g.173050279G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.173050279G>T , CM000664.2:g.173050279G>T	GRCh38
NC_000002.11:g.173915007G>T , CM000664.1:g.173915007G>T	GRCh37
NC_000002.10:g.173623253G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000397081.8:c.2909-1361G>T MANE Select	ENSP00000380271.3:n.2909-1361G>T
ENST00000397081.7:c.2909-1361G>T	ENSP00000380271.3:n.2909-1361G>T
ENST00000397087.7:c.2477-1361G>T	ENSP00000380276.3:n.2477-1361G>T
ENST00000409036.5:c.2705-1361G>T	ENSP00000387104.1:n.2705-1361G>T
ENST00000484645.1:n.528-1361G>T
ENST00000535187.5:c.2249-1361G>T	ENSP00000438011.1:n.2249-1361G>T
ENST00000538974.5:c.2396-1361G>T	ENSP00000440135.1:n.2396-1361G>T
ENST00000540783.5:c.2450-1361G>T	ENSP00000440250.1:n.2450-1361G>T
NM_001100397.1:c.2477-1361G>T	NP_001093867.1:n.2477-1361G>T
NM_001282899.1:c.2450-1361G>T	NP_001269828.1:n.2450-1361G>T
NM_001282900.1:c.2396-1361G>T	NP_001269829.1:n.2396-1361G>T
NM_001282901.1:c.2249-1361G>T	NP_001269830.1:n.2249-1361G>T
NM_007023.3:c.2909-1361G>T	NP_008954.2:n.2909-1361G>T
XM_005246246.1:c.2855-1361G>T	XP_005246303.1:n.2855-1361G>T
XM_006712205.2:c.2396-1361G>T	XP_006712268.1:n.2396-1361G>T
XM_011510505.1:c.2519-1361G>T	XP_011508807.1:n.2519-1361G>T
XM_005246246.3:c.2855-1361G>T	XP_005246303.1:n.2855-1361G>T
XM_006712205.3:c.2396-1361G>T	XP_006712268.1:n.2396-1361G>T
XM_011510505.3:c.2519-1361G>T	XP_011508807.1:n.2519-1361G>T
XM_017003197.1:c.2423-1361G>T	XP_016858686.1:n.2423-1361G>T
NM_007023.4:c.2909-1361G>T MANE Select	NP_008954.2:n.2909-1361G>T
NM_001100397.2:c.2477-1361G>T	NP_001093867.1:n.2477-1361G>T
NM_001282899.2:c.2450-1361G>T	NP_001269828.1:n.2450-1361G>T
NM_001282900.2:c.2396-1361G>T	NP_001269829.1:n.2396-1361G>T
NM_001282901.2:c.2249-1361G>T	NP_001269830.1:n.2249-1361G>T
NM_001375864.1:c.2879-1361G>T	NP_001362793.1:n.2879-1361G>T
NM_001375865.1:c.2876-1361G>T	NP_001362794.1:n.2876-1361G>T
NM_001375866.1:c.2855-1361G>T	NP_001362795.1:n.2855-1361G>T
NM_001375867.1:c.2816-1361G>T	NP_001362796.1:n.2816-1361G>T
NM_001375868.1:c.2762-1361G>T	NP_001362797.1:n.2762-1361G>T
NM_001375869.1:c.2756-1361G>T	NP_001362798.1:n.2756-1361G>T
NM_001375870.1:c.2844-1361G>T	NP_001362799.1:n.2844-1361G>T
NM_001375871.1:c.2708-1361G>T	NP_001362800.1:n.2708-1361G>T
NM_001375872.1:c.2705-1361G>T	NP_001362801.1:n.2705-1361G>T
NM_001375873.1:c.2702-1361G>T	NP_001362802.1:n.2702-1361G>T
NM_001375874.1:c.2790-1361G>T	NP_001362803.1:n.2790-1361G>T
NR_164739.1:n.3180-1361G>T
NR_164740.1:n.3126-1361G>T
NR_164741.1:n.2906-1361G>T