Canonical Allele Identifier: CA485617821

Linked Data

MyVariant Identifiers: chr14:g.23886802T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417593T>A , CM000676.2:g.23417593T>A GRCh38
NC_000014.8:g.23886802T>A , CM000676.1:g.23886802T>A GRCh37
NC_000014.7:g.22956642T>A NCBI36
NG_007884.1:g.23069A>T , LRG_384:g.23069A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4263A>T (MYH7) MANE Select ENSP00000347507.3:p.Leu1421=
ENST00000355349.3:c.4263A>T (MYH7) ENSP00000347507.3:p.Leu1421=
NM_000257.3:c.4263A>T (MYH7) NP_000248.2:p.Leu1421=
NR_126491.1:n.874T>A (MHRT)
XM_017021340.1:c.4263A>T (MYH7) XP_016876829.1:p.Leu1421=
NM_000257.4:c.4263A>T (MYH7) MANE Select NP_000248.2:p.Leu1421=