Canonical Allele Identifier: CA043848
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 922222
ClinVar RCV Id: RCV001182154 RCV002327438 RCV002068308 RCV002466627
dbSNP Id: rs774540446
ExAC: 14:23885379 G / A
gnomAD v2: 14-23885379-G-A
gnomAD v3: 14-23416170-G-A
gnomAD v4: 14-23416170-G-A
MyVariant Identifiers: chr14:g.23885379G>A (hg19) chr14:g.23416170G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416170G>A , CM000676.2:g.23416170G>A GRCh38
NC_000014.8:g.23885379G>A , CM000676.1:g.23885379G>A GRCh37
NC_000014.7:g.22955219G>A NCBI36
NG_007884.1:g.24492C>T , LRG_384:g.24492C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4787C>T (MYH7) MANE Select ENSP00000347507.3:p.Ser1596Leu
ENST00000355349.3:c.4787C>T (MYH7) ENSP00000347507.3:p.Ser1596Leu
NM_000257.3:c.4787C>T (MYH7) NP_000248.2:p.Ser1596Leu
NR_126491.1:n.431G>A (MHRT)
XM_017021340.1:c.4787C>T (MYH7) XP_016876829.1:p.Ser1596Leu
NM_000257.4:c.4787C>T (MYH7) MANE Select NP_000248.2:p.Ser1596Leu
Search 100 bp 5'
Search 100 bp 3'