Canonical Allele Identifier: CA389037184
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 1418212
ClinVar RCV Id: RCV001952003 RCV003533056
dbSNP Id: rs1398693075
gnomAD v2: 14-23885004-T-C
gnomAD v4: 14-23415795-T-C
MyVariant Identifiers: chr14:g.23885004T>C (hg19) chr14:g.23415795T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415795T>C , CM000676.2:g.23415795T>C GRCh38
NC_000014.8:g.23885004T>C , CM000676.1:g.23885004T>C GRCh37
NC_000014.7:g.22954844T>C NCBI36
NG_007884.1:g.24867A>G , LRG_384:g.24867A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4991A>G (MYH7) MANE Select ENSP00000347507.3:p.Asn1664Ser
ENST00000355349.3:c.4991A>G (MYH7) ENSP00000347507.3:p.Asn1664Ser
NM_000257.3:c.4991A>G (MYH7) NP_000248.2:p.Asn1664Ser
NR_126491.1:n.227T>C (MHRT)
XM_017021340.1:c.4991A>G (MYH7) XP_016876829.1:p.Asn1664Ser
NM_000257.4:c.4991A>G (MYH7) MANE Select NP_000248.2:p.Asn1664Ser
Search 100 bp 5'
Search 100 bp 3'