Canonical Allele Identifier: CA015251
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 43032
ClinVar RCV Id: RCV000035926 RCV000247901 RCV000277849 RCV000332866 RCV000293254 RCV000320200 RCV000758024 RCV001094203 RCV001705654 RCV003320080
dbSNP Id: rs7140196
ExAC: 14:23885450 G / A
gnomAD v2: 14-23885450-G-A
gnomAD v3: 14-23416241-G-A
gnomAD v4: 14-23416241-G-A
COSMIC: COSM262222
MyVariant Identifiers: chr14:g.23885450G>A (hg19) chr14:g.23416241G>A (hg38)
PubMed: PMID:29300372
ERepo: CA015251/MONDO:0004994/002
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416241G>A , CM000676.2:g.23416241G>A GRCh38
NC_000014.8:g.23885450G>A , CM000676.1:g.23885450G>A GRCh37
NC_000014.7:g.22955290G>A NCBI36
NG_007884.1:g.24421C>T , LRG_384:g.24421C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4716C>T (MYH7) MANE Select ENSP00000347507.3:p.Ile1572=
ENST00000355349.3:c.4716C>T (MYH7) ENSP00000347507.3:p.Ile1572=
NM_000257.3:c.4716C>T (MYH7) NP_000248.2:p.Ile1572=
NR_126491.1:n.502G>A (MHRT)
XM_017021340.1:c.4716C>T (MYH7) XP_016876829.1:p.Ile1572=
NM_000257.4:c.4716C>T (MYH7) MANE Select NP_000248.2:p.Ile1572=
Search 100 bp 5'
Search 100 bp 3'