Canonical Allele Identifier: CA14722884
Gene: MYH14 HGNC NCBI
dbSNP:
648298
gnomAD v2:
19:50693133 T / C
gnomAD v3:
19:50189876 T / C
gnomAD v4:
chr19-50189876-T-C
Joint Max Group AF 0.43373932 (NFE)
Genomes Max Group AF 0.43373932 (NFE)
MyVariant.info:
GRCh38 chr19:g.50189876T>C
GRCh37 chr19:g.50693133T>C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50189876T>C , CM000681.2:g.50189876T>C GRCh38
NC_000019.9:g.50693133T>C , CM000681.1:g.50693133T>C GRCh37
NC_000019.8:g.55384945T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000598205.5:c.-4+1569T>C ENSP00000472543.1:n.-4+1569T>C
XM_011527320.1:c.117+1569T>C XP_011525622.1:n.117+1569T>C
XM_011527321.1:c.117+1569T>C XP_011525623.1:n.117+1569T>C
XM_011527322.1:c.117+1569T>C XP_011525624.1:n.117+1569T>C
XM_011527320.2:c.117+1569T>C XP_011525622.1:n.117+1569T>C
XM_011527321.2:c.117+1569T>C XP_011525623.1:n.117+1569T>C
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