Canonical Allele Identifier: CA2500838517
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 3075469
ClinVar RCV Id: RCV004016987
gnomAD v4: 14-23429107-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429107G>T , CM000676.2:g.23429107G>T GRCh38
NC_000014.8:g.23898316G>T , CM000676.1:g.23898316G>T GRCh37
NC_000014.7:g.22968156G>T NCBI36
NG_007884.1:g.11555C>A , LRG_384:g.11555C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1258-3C>A MANE Select ENSP00000347507.3:n.1258-3C>A
ENST00000355349.3:c.1258-3C>A ENSP00000347507.3:n.1258-3C>A
NM_000257.3:c.1258-3C>A NP_000248.2:n.1258-3C>A
XR_245686.3:n.1364-3C>A
XM_017021340.1:c.1258-3C>A XP_016876829.1:n.1258-3C>A
NM_000257.4:c.1258-3C>A MANE Select NP_000248.2:n.1258-3C>A
Search 100 bp 5'
Search 100 bp 3'