Canonical Allele Identifier: CA2624233953
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 3020852
ClinVar RCV Id: RCV003880011
gnomAD v4: 14-23415991-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415991T>C , CM000676.2:g.23415991T>C GRCh38
NC_000014.8:g.23885200T>C , CM000676.1:g.23885200T>C GRCh37
NC_000014.7:g.22955040T>C NCBI36
NG_007884.1:g.24671A>G , LRG_384:g.24671A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.4953+13A>G (MYH7) MANE Select ENSP00000347507.3:n.4953+13A>G
ENST00000355349.3:c.4953+13A>G (MYH7) ENSP00000347507.3:n.4953+13A>G
NM_000257.3:c.4953+13A>G (MYH7) NP_000248.2:n.4953+13A>G
NR_126491.1:n.262-10T>C (MHRT)
XM_017021340.1:c.4953+13A>G (MYH7) XP_016876829.1:n.4953+13A>G
NM_000257.4:c.4953+13A>G (MYH7) MANE Select NP_000248.2:n.4953+13A>G
Search 100 bp 5'
Search 100 bp 3'