Canonical Allele Identifier: CA485766293

Linked Data

MyVariant Identifiers: chr14:g.23885006G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415797G>A , CM000676.2:g.23415797G>A GRCh38
NC_000014.8:g.23885006G>A , CM000676.1:g.23885006G>A GRCh37
NC_000014.7:g.22954846G>A NCBI36
NG_007884.1:g.24865C>T , LRG_384:g.24865C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4989C>T (MYH7) MANE Select ENSP00000347507.3:p.Ala1663=
ENST00000355349.3:c.4989C>T (MYH7) ENSP00000347507.3:p.Ala1663=
NM_000257.3:c.4989C>T (MYH7) NP_000248.2:p.Ala1663=
NR_126491.1:n.229G>A (MHRT)
XM_017021340.1:c.4989C>T (MYH7) XP_016876829.1:p.Ala1663=
NM_000257.4:c.4989C>T (MYH7) MANE Select NP_000248.2:p.Ala1663=