Canonical Allele Identifier: CA014012
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 42971
ClinVar RCV Id: RCV000035864 RCV001037116 RCV002482967 RCV003129763 RCV003996210 RCV003372604
dbSNP Id: rs397516192
gnomAD v2: 14-23888811-A-T
gnomAD v4: 14-23419602-A-T
MyVariant Identifiers: chr14:g.23888811A>T (hg19) chr14:g.23419602A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23419602A>T , CM000676.2:g.23419602A>T GRCh38
NC_000014.8:g.23888811A>T , CM000676.1:g.23888811A>T GRCh37
NC_000014.7:g.22958651A>T NCBI36
NG_007884.1:g.21060T>A , LRG_384:g.21060T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3734T>A MANE Select ENSP00000347507.3:p.Leu1245Gln
ENST00000355349.3:c.3734T>A ENSP00000347507.3:p.Leu1245Gln
NM_000257.3:c.3734T>A NP_000248.2:p.Leu1245Gln
XM_017021340.1:c.3734T>A XP_016876829.1:p.Leu1245Gln
NM_000257.4:c.3734T>A MANE Select NP_000248.2:p.Leu1245Gln
Search 100 bp 5'
Search 100 bp 3'