Canonical Allele Identifier: CA574262236

Gene: SUN3

Linked Data

• dbSNP Id: rs1463068670
• gnomAD v2: 7-48031672-C-T
• gnomAD v3: 7-47992075-C-T
• gnomAD v4: 7-47992075-C-T
• MyVariant Identifiers: chr7:g.48031672C>T (hg19) ; chr7:g.47992075C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.47992075C>T , CM000669.2:g.47992075C>T	GRCh38
NC_000007.13:g.48031672C>T , CM000669.1:g.48031672C>T	GRCh37
NC_000007.12:g.47998197C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000297325.9:c.861+2240G>A MANE Select	ENSP00000297325.4:n.861+2240G>A
ENST00000297325.8:c.861+2240G>A	ENSP00000297325.4:n.861+2240G>A
ENST00000395572.6:c.861+2240G>A	ENSP00000378939.2:n.861+2240G>A
ENST00000412142.5:c.825+2240G>A	ENSP00000410204.2:n.825+2240G>A
ENST00000412371.5:c.327+2240G>A	ENSP00000406887.1:n.327+2240G>A
ENST00000438771.5:c.562-1030G>A	ENSP00000409077.1:n.562-1030G>A
ENST00000449896.2:c.*689+2240G>A	ENSP00000395392.2:n.*689+2240G>A
ENST00000453071.5:c.632+2240G>A
ENST00000453192.3:c.573+2228G>A	ENSP00000387525.3:n.573+2228G>A
ENST00000473723.5:n.339-1030G>A
NM_001030019.1:c.861+2240G>A	NP_001025190.1:n.861+2240G>A
NM_001284350.1:c.825+2240G>A	NP_001271279.1:n.825+2240G>A
NM_152782.3:c.861+2240G>A	NP_689995.3:n.861+2240G>A
XM_011515252.1:c.882+977G>A	XP_011513554.1:n.882+977G>A
XM_011515253.1:c.582+977G>A	XP_011513555.1:n.582+977G>A
XM_017011930.1:c.861+2240G>A	XP_016867419.1:n.861+2240G>A
XR_002956417.1:n.1148+816G>A
NM_001030019.2:c.861+2240G>A MANE Select	NP_001025190.1:n.861+2240G>A
NM_001284350.2:c.825+2240G>A	NP_001271279.1:n.825+2240G>A
NM_152782.4:c.861+2240G>A	NP_689995.3:n.861+2240G>A