Canonical Allele Identifier: CA045118
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

dbSNP Id: rs772745454
ExAC: 14:23884956 A / G
gnomAD v2: 14-23884956-A-G
gnomAD v4: 14-23415747-A-G
MyVariant Identifiers: chr14:g.23884956A>G (hg19) chr14:g.23415747A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415747A>G , CM000676.2:g.23415747A>G GRCh38
NC_000014.8:g.23884956A>G , CM000676.1:g.23884956A>G GRCh37
NC_000014.7:g.22954796A>G NCBI36
NG_007884.1:g.24915T>C , LRG_384:g.24915T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5039T>C (MYH7) MANE Select ENSP00000347507.3:p.Leu1680Pro
ENST00000355349.3:c.5039T>C (MYH7) ENSP00000347507.3:p.Leu1680Pro
NM_000257.3:c.5039T>C (MYH7) NP_000248.2:p.Leu1680Pro
NR_126491.1:n.179A>G (MHRT)
XM_017021340.1:c.5039T>C (MYH7) XP_016876829.1:p.Leu1680Pro
NM_000257.4:c.5039T>C (MYH7) MANE Select NP_000248.2:p.Leu1680Pro
Search 100 bp 5'
Search 100 bp 3'