Canonical Allele Identifier: CA048336
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs745347396
ExAC: 14:23882917 T / G
gnomAD v2: 14-23882917-T-G
gnomAD v4: 14-23413708-T-G
MyVariant Identifiers: chr14:g.23882917T>G (hg19) chr14:g.23413708T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413708T>G , CM000676.2:g.23413708T>G GRCh38
NC_000014.8:g.23882917T>G , CM000676.1:g.23882917T>G GRCh37
NC_000014.7:g.22952757T>G NCBI36
NG_007884.1:g.26954A>C , LRG_384:g.26954A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5790+51A>C MANE Select ENSP00000347507.3:n.5790+51A>C
ENST00000355349.3:c.5790+51A>C ENSP00000347507.3:n.5790+51A>C
NM_000257.3:c.5790+51A>C NP_000248.2:n.5790+51A>C
XM_017021340.1:c.5790+51A>C XP_016876829.1:n.5790+51A>C
NM_000257.4:c.5790+51A>C MANE Select NP_000248.2:n.5790+51A>C
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