Canonical Allele Identifier: CA044290
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 1990615
ClinVar RCV Id: RCV002801005
dbSNP Id: rs777500254
ExAC: 14:23885201 CT / C
gnomAD v2: 14-23885201-CT-C
gnomAD v4: 14-23415992-CT-C
MyVariant Identifiers: chr14:g.23885202del (hg19) chr14:g.23415993del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415993del , CM000676.2:g.23415993del GRCh38
NC_000014.8:g.23885202del , CM000676.1:g.23885202del GRCh37
NC_000014.7:g.22955042del NCBI36
NG_007884.1:g.24669del , LRG_384:g.24669del

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.4953+11del (MYH7) MANE Select ENSP00000347507.3:n.4953+11del
ENST00000355349.3:c.4953+11del (MYH7) ENSP00000347507.3:n.4953+11del
NM_000257.3:c.4953+11del (MYH7) NP_000248.2:n.4953+11del
NR_126491.1:n.262-8del (MHRT)
XM_017021340.1:c.4953+11del (MYH7) XP_016876829.1:n.4953+11del
NM_000257.4:c.4953+11del (MYH7) MANE Select NP_000248.2:n.4953+11del
Search 100 bp 5'
Search 100 bp 3'