Canonical Allele Identifier: CA257827095
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs566746385
gnomAD v2: 14-23903200-G-A
gnomAD v3: 14-23433991-G-A
gnomAD v4: 14-23433991-G-A
MyVariant Identifiers: chr14:g.23903200G>A (hg19) chr14:g.23433991G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23433991G>A , CM000676.2:g.23433991G>A GRCh38
NC_000014.8:g.23903200G>A , CM000676.1:g.23903200G>A GRCh37
NC_000014.7:g.22973040G>A NCBI36
NG_007884.1:g.6671C>T , LRG_384:g.6671C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.-9+203C>T MANE Select ENSP00000347507.3:n.-9+203C>T
ENST00000355349.3:c.-9+203C>T ENSP00000347507.3:n.-9+203C>T
NM_000257.3:c.-9+203C>T NP_000248.2:n.-9+203C>T
XR_245686.3:n.98+203C>T
XM_017021340.1:c.-8-251C>T XP_016876829.1:n.-8-251C>T
NM_000257.4:c.-9+203C>T MANE Select NP_000248.2:n.-9+203C>T
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