Canonical Allele Identifier: CA389039969
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.23886710A>T (hg19) chr14:g.23417501A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417501A>T , CM000676.2:g.23417501A>T GRCh38
NC_000014.8:g.23886710A>T , CM000676.1:g.23886710A>T GRCh37
NC_000014.7:g.22956550A>T NCBI36
NG_007884.1:g.23161T>A , LRG_384:g.23161T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4353+2T>A (MYH7) MANE Select ENSP00000347507.3:n.4353+2T>A
ENST00000355349.3:c.4353+2T>A (MYH7) ENSP00000347507.3:n.4353+2T>A
NM_000257.3:c.4353+2T>A (MYH7) NP_000248.2:n.4353+2T>A
NR_126491.1:n.814-32A>T (MHRT)
XM_017021340.1:c.4353+2T>A (MYH7) XP_016876829.1:n.4353+2T>A
NM_000257.4:c.4353+2T>A (MYH7) MANE Select NP_000248.2:n.4353+2T>A
Search 100 bp 5'
Search 100 bp 3'