Canonical Allele Identifier: CA308125855

Gene: ACTN4

Linked Data

• dbSNP Id: rs768544485
• gnomAD v4: 19-38729428-T-C
• MyVariant Identifiers: chr19:g.39220068T>C (hg19) ; chr19:g.38729428T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38729428T>C , CM000681.2:g.38729428T>C	GRCh38
NC_000019.9:g.39220068T>C , CM000681.1:g.39220068T>C	GRCh37
NC_000019.8:g.43911908T>C	NCBI36
NG_007082.2:g.86742T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000440400.3:c.2717T>C	ENSP00000398393.2:p.Leu906Pro
ENST00000697712.1:c.2591T>C	ENSP00000513410.1:p.Leu864Pro
ENST00000252699.7:c.2732T>C MANE Select	ENSP00000252699.2:p.Leu911Pro
ENST00000424234.7:c.2732T>C	ENSP00000411187.4:p.Leu911Pro
ENST00000440400.2:c.2717T>C	ENSP00000398393.2:p.Leu906Pro
ENST00000252699.6:c.2732T>C	ENSP00000252699.2:p.Leu911Pro
ENST00000390009.7:c.2075T>C	ENSP00000439497.1:p.Leu692Pro
ENST00000424234.6:c.1562T>C	ENSP00000411187.3:p.Leu521Pro
ENST00000440400.1:c.1025T>C	ENSP00000398393.1:p.Leu342Pro
ENST00000497637.5:n.485T>C
ENST00000589528.1:c.286-561T>C
NM_004924.4:c.2732T>C	NP_004915.2:p.Leu911Pro
XM_005259281.3:c.2717T>C	XP_005259338.1:p.Leu906Pro
XM_005259282.3:c.2717T>C	XP_005259339.1:p.Leu906Pro
XM_006723406.1:c.2732T>C	XP_006723469.1:p.Leu911Pro
NM_001322033.1:c.2717T>C	NP_001308962.1:p.Leu906Pro
NM_004924.5:c.2732T>C	NP_004915.2:p.Leu911Pro
XM_005259281.5:c.2717T>C	XP_005259338.1:p.Leu906Pro
XM_006723406.3:c.2732T>C	XP_006723469.1:p.Leu911Pro
XM_017027331.2:c.2798T>C	XP_016882820.1:p.Leu933Pro
NM_004924.6:c.2732T>C MANE Select	NP_004915.2:p.Leu911Pro
NM_001322033.2:c.2717T>C	NP_001308962.1:p.Leu906Pro