Canonical Allele Identifier: CA485616157
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 698973
ClinVar RCV Id: RCV000866615 RCV001177909 RCV002345973
dbSNP Id: rs1595070496
gnomAD v4: 14-23413873-G-A
COSMIC: COSM235008
MyVariant Identifiers: chr14:g.23883082G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413873G>A , CM000676.2:g.23413873G>A GRCh38
NC_000014.8:g.23883082G>A , CM000676.1:g.23883082G>A GRCh37
NC_000014.7:g.22952922G>A NCBI36
NG_007884.1:g.26789C>T , LRG_384:g.26789C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5676C>T MANE Select ENSP00000347507.3:p.Asn1892=
ENST00000355349.3:c.5676C>T ENSP00000347507.3:p.Asn1892=
NM_000257.3:c.5676C>T NP_000248.2:p.Asn1892=
XM_017021340.1:c.5676C>T XP_016876829.1:p.Asn1892=
NM_000257.4:c.5676C>T MANE Select NP_000248.2:p.Asn1892=
Search 100 bp 5'
Search 100 bp 3'