Canonical Allele Identifier: CA046706
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 237439
ClinVar RCV Id: RCV000228562 RCV000621223 RCV001180040 RCV001699254 RCV001726061
dbSNP Id: rs147433856
ExAC: 14:23884351 G / C
gnomAD v2: 14-23884351-G-C
gnomAD v3: 14-23415142-G-C
gnomAD v4: 14-23415142-G-C
MyVariant Identifiers: chr14:g.23884351G>C (hg19) chr14:g.23415142G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415142G>C , CM000676.2:g.23415142G>C GRCh38
NC_000014.8:g.23884351G>C , CM000676.1:g.23884351G>C GRCh37
NC_000014.7:g.22954191G>C NCBI36
NG_007884.1:g.25520C>G , LRG_384:g.25520C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.5412C>G MANE Select ENSP00000347507.3:p.Ala1804=
ENST00000355349.3:c.5412C>G ENSP00000347507.3:p.Ala1804=
NM_000257.3:c.5412C>G NP_000248.2:p.Ala1804=
XM_017021340.1:c.5412C>G XP_016876829.1:p.Ala1804=
NM_000257.4:c.5412C>G MANE Select NP_000248.2:p.Ala1804=
Search 100 bp 5'
Search 100 bp 3'