Canonical Allele Identifier: CA2624233935
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

gnomAD v4: 14-23415986-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415986T>A , CM000676.2:g.23415986T>A GRCh38
NC_000014.8:g.23885195T>A , CM000676.1:g.23885195T>A GRCh37
NC_000014.7:g.22955035T>A NCBI36
NG_007884.1:g.24676A>T , LRG_384:g.24676A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.4953+18A>T (MYH7) MANE Select ENSP00000347507.3:n.4953+18A>T
ENST00000355349.3:c.4953+18A>T (MYH7) ENSP00000347507.3:n.4953+18A>T
NM_000257.3:c.4953+18A>T (MYH7) NP_000248.2:n.4953+18A>T
NR_126491.1:n.262-15T>A (MHRT)
XM_017021340.1:c.4953+18A>T (MYH7) XP_016876829.1:n.4953+18A>T
NM_000257.4:c.4953+18A>T (MYH7) MANE Select NP_000248.2:n.4953+18A>T
Search 100 bp 5'
Search 100 bp 3'