Canonical Allele Identifier: CA043479
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

dbSNP Id: rs757517169
ExAC: 14:23885480 CTGGGCCCGGAGGATCT / C
gnomAD v2: 14-23885480-CTGGGCCCGGAGGATCT-C
gnomAD v4: 14-23416271-CTGGGCCCGGAGGATCT-C
MyVariant Identifiers: chr14:g.23885481_23885496del (hg19) chr14:g.23416272_23416287del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416274_23416289del , CM000676.2:g.23416274_23416289del GRCh38
NC_000014.8:g.23885483_23885498del , CM000676.1:g.23885483_23885498del GRCh37
NC_000014.7:g.22955323_22955338del NCBI36
NG_007884.1:g.24375_24390del , LRG_384:g.24375_24390del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4670_4685del (MYH7) MANE Select ENSP00000347507.3:p.Lys1557SerfsTer?
ENST00000355349.3:c.4670_4685del (MYH7) ENSP00000347507.3:p.Lys1557SerfsTer?
NM_000257.3:c.4670_4685del (MYH7) NP_000248.2:p.Lys1557SerfsTer?
NR_126491.1:n.535_550del (MHRT)
XM_017021340.1:c.4670_4685del (MYH7) XP_016876829.1:p.Lys1557SerfsTer?
NM_000257.4:c.4670_4685del (MYH7) MANE Select NP_000248.2:p.Lys1557SerfsTer?
Search 100 bp 5'
Search 100 bp 3'