Canonical Allele Identifier: CA389040086
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 1395735
ClinVar RCV Id: RCV001919784 RCV003130584
dbSNP Id: rs2138646412
gnomAD v4: 14-23417529-C-G
MyVariant Identifiers: chr14:g.23886738C>G (hg19) chr14:g.23417529C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417529C>G , CM000676.2:g.23417529C>G GRCh38
NC_000014.8:g.23886738C>G , CM000676.1:g.23886738C>G GRCh37
NC_000014.7:g.22956578C>G NCBI36
NG_007884.1:g.23133G>C , LRG_384:g.23133G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4327G>C (MYH7) MANE Select ENSP00000347507.3:p.Asp1443His
ENST00000355349.3:c.4327G>C (MYH7) ENSP00000347507.3:p.Asp1443His
NM_000257.3:c.4327G>C (MYH7) NP_000248.2:p.Asp1443His
NR_126491.1:n.814-4C>G (MHRT)
XM_017021340.1:c.4327G>C (MYH7) XP_016876829.1:p.Asp1443His
NM_000257.4:c.4327G>C (MYH7) MANE Select NP_000248.2:p.Asp1443His
Search 100 bp 5'
Search 100 bp 3'