Canonical Allele Identifier: CA257816008
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1212835
ClinVar RCV Id: RCV001586482
dbSNP Id: rs72488271
gnomAD v2: 14-23889534-G-A
gnomAD v3: 14-23420325-G-A
gnomAD v4: 14-23420325-G-A
MyVariant Identifiers: chr14:g.23889534G>A (hg19) chr14:g.23420325G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420325G>A , CM000676.2:g.23420325G>A GRCh38
NC_000014.8:g.23889534G>A , CM000676.1:g.23889534G>A GRCh37
NC_000014.7:g.22959374G>A NCBI36
NG_007884.1:g.20337C>T , LRG_384:g.20337C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3337-91C>T MANE Select ENSP00000347507.3:n.3337-91C>T
ENST00000355349.3:c.3337-91C>T ENSP00000347507.3:n.3337-91C>T
NM_000257.3:c.3337-91C>T NP_000248.2:n.3337-91C>T
XR_245686.3:n.3445-91C>T
XM_017021340.1:c.3337-91C>T XP_016876829.1:n.3337-91C>T
NM_000257.4:c.3337-91C>T MANE Select NP_000248.2:n.3337-91C>T
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