Canonical Allele Identifier: CA2123445570
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1080854
ClinVar RCV Id: RCV001396619 RCV003532971
dbSNP Id: rs1892384390
gnomAD v4: 14-23419617-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23419617G>A , CM000676.2:g.23419617G>A GRCh38
NC_000014.8:g.23888826G>A , CM000676.1:g.23888826G>A GRCh37
NC_000014.7:g.22958666G>A NCBI36
NG_007884.1:g.21045C>T , LRG_384:g.21045C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3727-8C>T MANE Select ENSP00000347507.3:n.3727-8C>T
ENST00000355349.3:c.3727-8C>T ENSP00000347507.3:n.3727-8C>T
NM_000257.3:c.3727-8C>T NP_000248.2:n.3727-8C>T
XM_017021340.1:c.3727-8C>T XP_016876829.1:n.3727-8C>T
NM_000257.4:c.3727-8C>T MANE Select NP_000248.2:n.3727-8C>T
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