Canonical Allele Identifier: CA042499
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 414333
ClinVar RCV Id: RCV000460593 RCV001524124
dbSNP Id: rs397516219
ExAC: 14:23886366 C / T
gnomAD v2: 14-23886366-C-T
gnomAD v3: 14-23417157-C-T
gnomAD v4: 14-23417157-C-T
MyVariant Identifiers: chr14:g.23886366C>T (hg19) chr14:g.23417157C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417157C>T , CM000676.2:g.23417157C>T GRCh38
NC_000014.8:g.23886366C>T , CM000676.1:g.23886366C>T GRCh37
NC_000014.7:g.22956206C>T NCBI36
NG_007884.1:g.23505G>A , LRG_384:g.23505G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4515G>A (MYH7) MANE Select ENSP00000347507.3:p.Leu1505=
ENST00000355349.3:c.4515G>A (MYH7) ENSP00000347507.3:p.Leu1505=
NM_000257.3:c.4515G>A (MYH7) NP_000248.2:p.Leu1505=
NR_126491.1:n.652-55C>T (MHRT)
XM_017021340.1:c.4515G>A (MYH7) XP_016876829.1:p.Leu1505=
NM_000257.4:c.4515G>A (MYH7) MANE Select NP_000248.2:p.Leu1505=
Search 100 bp 5'
Search 100 bp 3'