Canonical Allele Identifier: CA2123441887
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1595075748
gnomAD v4: 14-23417882-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417882A>C , CM000676.2:g.23417882A>C GRCh38
NC_000014.8:g.23887091A>C , CM000676.1:g.23887091A>C GRCh37
NC_000014.7:g.22956931A>C NCBI36
NG_007884.1:g.22780T>G , LRG_384:g.22780T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4170-196T>G MANE Select ENSP00000347507.3:n.4170-196T>G
ENST00000355349.3:c.4170-196T>G ENSP00000347507.3:n.4170-196T>G
NM_000257.3:c.4170-196T>G NP_000248.2:n.4170-196T>G
XM_017021340.1:c.4170-196T>G XP_016876829.1:n.4170-196T>G
NM_000257.4:c.4170-196T>G MANE Select NP_000248.2:n.4170-196T>G
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