Canonical Allele Identifier: CA248430
Gene: MCUB HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.109669323G>T
GRCh37 chr4:g.110590479G>T
gnomAD v2:
4:110590479 G / T
gnomAD v3:
4:109669323 G / T
gnomAD v4:
chr4-109669323-G-T
Joint Max Group AF 0.92903441 (AFR)
Genomes Max Group AF 0.92903441 (AFR)
ClinVar RCV:
RCV000190300
ClinVar Variation:
162164
dbSNP:
4698775
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109669323G>T , CM000666.2:g.109669323G>T GRCh38
NC_000004.11:g.110590479G>T , CM000666.1:g.110590479G>T GRCh37
NC_000004.10:g.110809928G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000394650.7:c.451+4929G>T MANE Select ENSP00000378145.4:n.451+4929G>T
ENST00000394650.6:c.451+4929G>T ENSP00000378145.4:n.451+4929G>T
ENST00000452915.3:n.546+4929G>T
ENST00000472310.5:n.580+4929G>T
NM_017918.4:c.451+4929G>T NP_060388.2:n.451+4929G>T
XM_006714246.2:c.364+4929G>T XP_006714309.1:n.364+4929G>T
XM_006714246.3:c.364+4929G>T XP_006714309.1:n.364+4929G>T
NM_017918.5:c.451+4929G>T MANE Select NP_060388.2:n.451+4929G>T
Search 100 bp 5'
Search 100 bp 3'