Canonical Allele Identifier: CA014888
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 43011
ClinVar RCV Id: RCV000035905 RCV000629073 RCV001188648
dbSNP Id: rs370093487
ExAC: 14:23886534 G / A
gnomAD v2: 14-23886534-G-A
gnomAD v3: 14-23417325-G-A
gnomAD v4: 14-23417325-G-A
MyVariant Identifiers: chr14:g.23886534G>A (hg19) chr14:g.23417325G>A (hg38)
PubMed: PMID:29300372
ERepo: CA014888/MONDO:0005045/002
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417325G>A , CM000676.2:g.23417325G>A GRCh38
NC_000014.8:g.23886534G>A , CM000676.1:g.23886534G>A GRCh37
NC_000014.7:g.22956374G>A NCBI36
NG_007884.1:g.23337C>T , LRG_384:g.23337C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4354-7C>T (MYH7) MANE Select ENSP00000347507.3:n.4354-7C>T
ENST00000355349.3:c.4354-7C>T (MYH7) ENSP00000347507.3:n.4354-7C>T
NM_000257.3:c.4354-7C>T (MYH7) NP_000248.2:n.4354-7C>T
NR_126491.1:n.765G>A (MHRT)
XM_017021340.1:c.4354-7C>T (MYH7) XP_016876829.1:n.4354-7C>T
NM_000257.4:c.4354-7C>T (MYH7) MANE Select NP_000248.2:n.4354-7C>T
Search 100 bp 5'
Search 100 bp 3'