Canonical Allele Identifier: CA044527
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

dbSNP Id: rs397516233
ExAC: 14:23885041 C / T
gnomAD v2: 14-23885041-C-T
gnomAD v4: 14-23415832-C-T
MyVariant Identifiers: chr14:g.23885041C>T (hg19) chr14:g.23415832C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415832C>T , CM000676.2:g.23415832C>T GRCh38
NC_000014.8:g.23885041C>T , CM000676.1:g.23885041C>T GRCh37
NC_000014.7:g.22954881C>T NCBI36
NG_007884.1:g.24830G>A , LRG_384:g.24830G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4954G>A (MYH7) MANE Select ENSP00000347507.3:p.Asp1652Asn
ENST00000355349.3:c.4954G>A (MYH7) ENSP00000347507.3:p.Asp1652Asn
NM_000257.3:c.4954G>A (MYH7) NP_000248.2:p.Asp1652Asn
NR_126491.1:n.261+3C>T (MHRT)
XM_017021340.1:c.4954G>A (MYH7) XP_016876829.1:p.Asp1652Asn
NM_000257.4:c.4954G>A (MYH7) MANE Select NP_000248.2:p.Asp1652Asn
Search 100 bp 5'
Search 100 bp 3'