Canonical Allele Identifier: CA032556
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 391904
ClinVar RCV Id: RCV000584770 RCV000428391 RCV001180607 RCV002446751 RCV003319198
dbSNP Id: rs141414377
ExAC: 14:23894494 C / T
gnomAD v2: 14-23894494-C-T
gnomAD v3: 14-23425285-C-T
gnomAD v4: 14-23425285-C-T
MyVariant Identifiers: chr14:g.23894494C>T (hg19) chr14:g.23425285C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23425285C>T , CM000676.2:g.23425285C>T GRCh38
NC_000014.8:g.23894494C>T , CM000676.1:g.23894494C>T GRCh37
NC_000014.7:g.22964334C>T NCBI36
NG_007884.1:g.15377G>A , LRG_384:g.15377G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2420G>A MANE Select ENSP00000347507.3:p.Arg807His
ENST00000355349.3:c.2420G>A ENSP00000347507.3:p.Arg807His
NM_000257.3:c.2420G>A NP_000248.2:p.Arg807His
XR_245686.3:n.2526G>A
XM_017021340.1:c.2420G>A XP_016876829.1:p.Arg807His
NM_000257.4:c.2420G>A MANE Select NP_000248.2:p.Arg807His
Search 100 bp 5'
Search 100 bp 3'