Canonical Allele Identifier: CA2123456577
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1893058820
gnomAD v4: 14-23434066-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23434066A>G , CM000676.2:g.23434066A>G GRCh38
NC_000014.8:g.23903275A>G , CM000676.1:g.23903275A>G GRCh37
NC_000014.7:g.22973115A>G NCBI36
NG_007884.1:g.6596T>C , LRG_384:g.6596T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.-9+128T>C MANE Select ENSP00000347507.3:n.-9+128T>C
ENST00000355349.3:c.-9+128T>C ENSP00000347507.3:n.-9+128T>C
NM_000257.3:c.-9+128T>C NP_000248.2:n.-9+128T>C
XR_245686.3:n.98+128T>C
XM_017021340.1:c.-8-326T>C XP_016876829.1:n.-8-326T>C
NM_000257.4:c.-9+128T>C MANE Select NP_000248.2:n.-9+128T>C
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