Canonical Allele Identifier: CA389044212
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1025672
ClinVar RCV Id: RCV001326014
dbSNP Id: rs730880773
gnomAD v4: 14-23420230-C-G
MyVariant Identifiers: chr14:g.23889439C>G (hg19) chr14:g.23420230C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420230C>G , CM000676.2:g.23420230C>G GRCh38
NC_000014.8:g.23889439C>G , CM000676.1:g.23889439C>G GRCh37
NC_000014.7:g.22959279C>G NCBI36
NG_007884.1:g.20432G>C , LRG_384:g.20432G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3341G>C MANE Select ENSP00000347507.3:p.Arg1114Pro
ENST00000355349.3:c.3341G>C ENSP00000347507.3:p.Arg1114Pro
NM_000257.3:c.3341G>C NP_000248.2:p.Arg1114Pro
XR_245686.3:n.3449G>C
XM_017021340.1:c.3341G>C XP_016876829.1:p.Arg1114Pro
NM_000257.4:c.3341G>C MANE Select NP_000248.2:p.Arg1114Pro
Search 100 bp 5'
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