Canonical Allele Identifier: CA045149
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

dbSNP Id: rs776639582
ExAC: 14:23884941 A / T
gnomAD v2: 14-23884941-A-T
gnomAD v4: 14-23415732-A-T
MyVariant Identifiers: chr14:g.23884941A>T (hg19) chr14:g.23415732A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415732A>T , CM000676.2:g.23415732A>T GRCh38
NC_000014.8:g.23884941A>T , CM000676.1:g.23884941A>T GRCh37
NC_000014.7:g.22954781A>T NCBI36
NG_007884.1:g.24930T>A , LRG_384:g.24930T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5054T>A (MYH7) MANE Select ENSP00000347507.3:p.Leu1685Gln
ENST00000355349.3:c.5054T>A (MYH7) ENSP00000347507.3:p.Leu1685Gln
NM_000257.3:c.5054T>A (MYH7) NP_000248.2:p.Leu1685Gln
NR_126491.1:n.164A>T (MHRT)
XM_017021340.1:c.5054T>A (MYH7) XP_016876829.1:p.Leu1685Gln
NM_000257.4:c.5054T>A (MYH7) MANE Select NP_000248.2:p.Leu1685Gln
Search 100 bp 5'
Search 100 bp 3'