Canonical Allele Identifier: CA2624255308
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs2138687900
gnomAD v4: 14-23434056-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23434056G>T , CM000676.2:g.23434056G>T GRCh38
NC_000014.8:g.23903265G>T , CM000676.1:g.23903265G>T GRCh37
NC_000014.7:g.22973105G>T NCBI36
NG_007884.1:g.6606C>A , LRG_384:g.6606C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.-9+138C>A MANE Select ENSP00000347507.3:n.-9+138C>A
ENST00000355349.3:c.-9+138C>A ENSP00000347507.3:n.-9+138C>A
NM_000257.3:c.-9+138C>A NP_000248.2:n.-9+138C>A
XR_245686.3:n.98+138C>A
XM_017021340.1:c.-8-316C>A XP_016876829.1:n.-8-316C>A
NM_000257.4:c.-9+138C>A MANE Select NP_000248.2:n.-9+138C>A
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