Canonical Allele Identifier: CA389037683
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 1321036
ClinVar RCV Id: RCV001777015 RCV004009049
dbSNP Id: rs1194197356
gnomAD v2: 14-23885404-G-T
gnomAD v4: 14-23416195-G-T
MyVariant Identifiers: chr14:g.23885404G>T (hg19) chr14:g.23416195G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416195G>T , CM000676.2:g.23416195G>T GRCh38
NC_000014.8:g.23885404G>T , CM000676.1:g.23885404G>T GRCh37
NC_000014.7:g.22955244G>T NCBI36
NG_007884.1:g.24467C>A , LRG_384:g.24467C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4762C>A (MYH7) MANE Select ENSP00000347507.3:p.Arg1588Ser
ENST00000355349.3:c.4762C>A (MYH7) ENSP00000347507.3:p.Arg1588Ser
NM_000257.3:c.4762C>A (MYH7) NP_000248.2:p.Arg1588Ser
NR_126491.1:n.456G>T (MHRT)
XM_017021340.1:c.4762C>A (MYH7) XP_016876829.1:p.Arg1588Ser
NM_000257.4:c.4762C>A (MYH7) MANE Select NP_000248.2:p.Arg1588Ser
Search 100 bp 5'
Search 100 bp 3'