Canonical Allele Identifier: CA961068541
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

dbSNP Id: rs1892184123
gnomAD v3: 14-23415946-A-T
gnomAD v4: 14-23415946-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415946A>T , CM000676.2:g.23415946A>T GRCh38
NC_000014.8:g.23885155A>T , CM000676.1:g.23885155A>T GRCh37
NC_000014.7:g.22954995A>T NCBI36
NG_007884.1:g.24716T>A , LRG_384:g.24716T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4953+58T>A (MYH7) MANE Select ENSP00000347507.3:n.4953+58T>A
ENST00000355349.3:c.4953+58T>A (MYH7) ENSP00000347507.3:n.4953+58T>A
NM_000257.3:c.4953+58T>A (MYH7) NP_000248.2:n.4953+58T>A
NR_126491.1:n.262-55A>T (MHRT)
XM_017021340.1:c.4953+58T>A (MYH7) XP_016876829.1:n.4953+58T>A
NM_000257.4:c.4953+58T>A (MYH7) MANE Select NP_000248.2:n.4953+58T>A
Search 100 bp 5'
Search 100 bp 3'