Canonical Allele Identifier: CA2123457696
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1416570508
gnomAD v4: 14-23413705-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413705G>C , CM000676.2:g.23413705G>C GRCh38
NC_000014.8:g.23882914G>C , CM000676.1:g.23882914G>C GRCh37
NC_000014.7:g.22952754G>C NCBI36
NG_007884.1:g.26957C>G , LRG_384:g.26957C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5790+54C>G MANE Select ENSP00000347507.3:n.5790+54C>G
ENST00000355349.3:c.5790+54C>G ENSP00000347507.3:n.5790+54C>G
NM_000257.3:c.5790+54C>G NP_000248.2:n.5790+54C>G
XM_017021340.1:c.5790+54C>G XP_016876829.1:n.5790+54C>G
NM_000257.4:c.5790+54C>G MANE Select NP_000248.2:n.5790+54C>G
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