Canonical Allele Identifier: CA405692993

Gene: ACTN4

Linked Data

• MyVariant Identifiers: chr19:g.39198776T>C (hg19) ; chr19:g.38708136T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38708136T>C , CM000681.2:g.38708136T>C	GRCh38
NC_000019.9:g.39198776T>C , CM000681.1:g.39198776T>C	GRCh37
NC_000019.8:g.43890616T>C	NCBI36
NG_007082.2:g.65450T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440400.3:c.592T>C	ENSP00000398393.2:p.Phe198Leu
ENST00000697712.1:c.451T>C	ENSP00000513410.1:p.Phe151Leu
ENST00000252699.7:c.592T>C MANE Select	ENSP00000252699.2:p.Phe198Leu
ENST00000424234.7:c.592T>C	ENSP00000411187.4:p.Phe198Leu
ENST00000440400.2:c.592T>C	ENSP00000398393.2:p.Phe198Leu
ENST00000252699.6:c.592T>C	ENSP00000252699.2:p.Phe198Leu
ENST00000390009.7:c.163-6333T>C	ENSP00000439497.1:n.163-6333T>C
ENST00000424234.6:c.272+7427T>C	ENSP00000411187.3:n.272+7427T>C
ENST00000495553.1:n.498T>C
ENST00000588618.5:n.689T>C
ENST00000589528.1:c.285+7422T>C
NM_004924.4:c.592T>C	NP_004915.2:p.Phe198Leu
XM_005259281.3:c.592T>C	XP_005259338.1:p.Phe198Leu
XM_005259282.3:c.592T>C	XP_005259339.1:p.Phe198Leu
XM_006723406.1:c.592T>C	XP_006723469.1:p.Phe198Leu
NM_001322033.1:c.592T>C	NP_001308962.1:p.Phe198Leu
NM_004924.5:c.592T>C	NP_004915.2:p.Phe198Leu
XM_005259281.5:c.592T>C	XP_005259338.1:p.Phe198Leu
XM_006723406.3:c.592T>C	XP_006723469.1:p.Phe198Leu
XM_017027331.2:c.592T>C	XP_016882820.1:p.Phe198Leu
XR_001753937.1:n.123-5972A>G
NM_004924.6:c.592T>C MANE Select	NP_004915.2:p.Phe198Leu
NM_001322033.2:c.592T>C	NP_001308962.1:p.Phe198Leu