Canonical Allele Identifier: CA12567987

Gene: RUNDC3B

Linked Data

• dbSNP Id: rs1029421
• gnomAD v2: 7-87418861-T-C
• gnomAD v3: 7-87789546-T-C
• gnomAD v4: 7-87789546-T-C
• MyVariant Identifiers: chr7:g.87418861T>C (hg19) ; chr7:g.87789546T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87789546T>C , CM000669.2:g.87789546T>C	GRCh38
NC_000007.13:g.87418861T>C , CM000669.1:g.87418861T>C	GRCh37
NC_000007.12:g.87256797T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000394654.4:c.956+11591T>C MANE Select	ENSP00000378149.3:n.956+11591T>C
ENST00000312373.12:n.723+11591T>C
ENST00000338056.7:c.1007+11591T>C	ENSP00000337732.3:n.1007+11591T>C
ENST00000394654.3:c.956+11591T>C	ENSP00000378149.3:n.956+11591T>C
ENST00000493037.5:c.956+11591T>C	ENSP00000420394.1:n.956+11591T>C
NM_001134405.1:c.956+11591T>C	NP_001127877.1:n.956+11591T>C
NM_001134406.1:c.956+11591T>C	NP_001127878.1:n.956+11591T>C
NM_138290.2:c.1007+11591T>C	NP_612147.1:n.1007+11591T>C
XM_005250156.2:c.956+11591T>C	XP_005250213.1:n.956+11591T>C
XM_005250158.2:c.596+11591T>C	XP_005250215.1:n.596+11591T>C
XM_011515826.1:c.1007+11591T>C	XP_011514128.1:n.1007+11591T>C
XM_011515827.1:c.1007+11591T>C	XP_011514129.1:n.1007+11591T>C
XM_011515828.1:c.614+11591T>C	XP_011514130.1:n.614+11591T>C
XM_011515829.1:c.614+11591T>C	XP_011514131.1:n.614+11591T>C
XM_011515828.2:c.614+11591T>C	XP_011514130.1:n.614+11591T>C
XM_011515829.2:c.614+11591T>C	XP_011514131.1:n.614+11591T>C
XM_017011761.2:c.614+11591T>C	XP_016867250.1:n.614+11591T>C
XM_017011762.1:c.614+11591T>C	XP_016867251.1:n.614+11591T>C
XM_017011763.2:c.614+11591T>C	XP_016867252.1:n.614+11591T>C
XM_017011764.1:c.596+11591T>C	XP_016867253.1:n.596+11591T>C
XM_017011765.2:c.614+11591T>C	XP_016867254.1:n.614+11591T>C
XM_017011766.2:c.614+11591T>C	XP_016867255.1:n.614+11591T>C
XM_024446669.1:c.596+11591T>C	XP_024302437.1:n.596+11591T>C
NM_001134405.2:c.956+11591T>C MANE Select	NP_001127877.1:n.956+11591T>C
NM_001134406.2:c.956+11591T>C	NP_001127878.1:n.956+11591T>C
NM_138290.3:c.1007+11591T>C	NP_612147.1:n.1007+11591T>C
NM_001394224.1:c.1007+11591T>C	NP_001381153.1:n.1007+11591T>C
NM_001394225.1:c.953+11591T>C	NP_001381154.1:n.953+11591T>C
NM_001394226.1:c.956+11591T>C	NP_001381155.1:n.956+11591T>C
NM_001394227.1:c.1007+11591T>C	NP_001381156.1:n.1007+11591T>C
NM_001394228.1:c.614+11591T>C	NP_001381157.1:n.614+11591T>C