Canonical Allele Identifier: CA704289602
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1475049461
gnomAD v3: 14-23421286-T-C
gnomAD v4: 14-23421286-T-C
MyVariant Identifiers: chr14:g.23890495T>C (hg19) chr14:g.23421286T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23421286T>C , CM000676.2:g.23421286T>C GRCh38
NC_000014.8:g.23890495T>C , CM000676.1:g.23890495T>C GRCh37
NC_000014.7:g.22960335T>C NCBI36
NG_007884.1:g.19376A>G , LRG_384:g.19376A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3246-238A>G MANE Select ENSP00000347507.3:n.3246-238A>G
ENST00000355349.3:c.3246-238A>G ENSP00000347507.3:n.3246-238A>G
NM_000257.3:c.3246-238A>G NP_000248.2:n.3246-238A>G
XR_245686.3:n.3354-238A>G
XM_017021340.1:c.3246-238A>G XP_016876829.1:n.3246-238A>G
NM_000257.4:c.3246-238A>G MANE Select NP_000248.2:n.3246-238A>G
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