Canonical Allele Identifier: CA257810307
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

dbSNP Id: rs371949574
gnomAD v3: 14-23415971-C-G
gnomAD v4: 14-23415971-C-G
MyVariant Identifiers: chr14:g.23885180C>G (hg19) chr14:g.23415971C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415971C>G , CM000676.2:g.23415971C>G GRCh38
NC_000014.8:g.23885180C>G , CM000676.1:g.23885180C>G GRCh37
NC_000014.7:g.22955020C>G NCBI36
NG_007884.1:g.24691G>C , LRG_384:g.24691G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.4953+33G>C (MYH7) MANE Select ENSP00000347507.3:n.4953+33G>C
ENST00000355349.3:c.4953+33G>C (MYH7) ENSP00000347507.3:n.4953+33G>C
NM_000257.3:c.4953+33G>C (MYH7) NP_000248.2:n.4953+33G>C
NR_126491.1:n.262-30C>G (MHRT)
XM_017021340.1:c.4953+33G>C (MYH7) XP_016876829.1:n.4953+33G>C
NM_000257.4:c.4953+33G>C (MYH7) MANE Select NP_000248.2:n.4953+33G>C
Search 100 bp 5'
Search 100 bp 3'