Canonical Allele Identifier: CA68280286

Gene: SH3BP4

Linked Data

• dbSNP Id: rs1038464930
• gnomAD v3: 2-234991559-A-G
• gnomAD v4: 2-234991559-A-G
• MyVariant Identifiers: chr2:g.235900203A>G (hg19) ; chr2:g.234991559A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.234991559A>G , CM000664.2:g.234991559A>G	GRCh38
NC_000002.11:g.235900203A>G , CM000664.1:g.235900203A>G	GRCh37
NC_000002.10:g.235564942A>G	NCBI36
NG_033930.1:g.44576A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000392011.7:c.-206-3744A>G MANE Select	ENSP00000375867.2:n.-206-3744A>G
ENST00000344528.8:c.-122-3744A>G	ENSP00000340237.4:n.-122-3744A>G
ENST00000392011.6:c.-206-3744A>G	ENSP00000375867.2:n.-206-3744A>G
ENST00000409212.5:c.-206-3744A>G	ENSP00000386862.1:n.-206-3744A>G
ENST00000416021.5:c.-133+39389A>G	ENSP00000403251.1:n.-133+39389A>G
ENST00000444916.5:c.-206-3744A>G	ENSP00000387995.1:n.-206-3744A>G
ENST00000446904.5:c.-206-3744A>G	ENSP00000415391.1:n.-206-3744A>G
ENST00000462602.6:n.149-3744A>G
NM_014521.2:c.-206-3744A>G	NP_055336.1:n.-206-3744A>G
XM_011510891.1:c.-206-3744A>G	XP_011509193.1:n.-206-3744A>G
XM_011510892.1:c.-206-3744A>G	XP_011509194.1:n.-206-3744A>G
XM_011510894.1:c.-206-3744A>G	XP_011509196.1:n.-206-3744A>G
XM_011510891.2:c.-206-3744A>G	XP_011509193.1:n.-206-3744A>G
XM_011510894.2:c.-206-3744A>G	XP_011509196.1:n.-206-3744A>G
NM_014521.3:c.-206-3744A>G MANE Select	NP_055336.1:n.-206-3744A>G
NM_001371302.1:c.-206-3744A>G	NP_001358231.1:n.-206-3744A>G
NM_001371303.1:c.-206-3744A>G	NP_001358232.1:n.-206-3744A>G
NM_001371304.1:c.-122-3744A>G	NP_001358233.1:n.-122-3744A>G
NM_001371305.1:c.-206-3744A>G	NP_001358234.1:n.-206-3744A>G