Canonical Allele Identifier: CA6387323

Gene: CACNA2D4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.1886036T>G , CM000674.2:g.1886036T>G	GRCh38
NC_000012.11:g.1995202T>G , CM000674.1:g.1995202T>G	GRCh37
NC_000012.10:g.1865463T>G	NCBI36
NG_012663.1:g.37669A>C
NG_012663.2:g.37669A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_172364.5:c.997A>C MANE Select	NP_758952.4:p.Asn333His
ENST00000382722.10:c.997A>C MANE Select	ENSP00000372169.4:p.Asn333His
NM_172364.4:c.997A>C	NP_758952.4:p.Asn333His
ENST00000280663.12:n.1190A>C
ENST00000382722.9:c.997A>C	ENSP00000372169.4:p.Asn333His
ENST00000444595.6:c.997A>C	ENSP00000403371.2:p.Asn333His
ENST00000585708.5:c.805A>C	ENSP00000467697.1:p.Asn269His
ENST00000585732.1:c.782-37A>C	ENSP00000468080.1:n.782-37A>C
ENST00000586184.5:c.997A>C	ENSP00000465060.1:p.Asn333His
ENST00000587995.5:c.997A>C	ENSP00000465372.1:p.Asn333His
ENST00000588077.5:c.805A>C	ENSP00000468530.1:p.Asn269His
XM_011521041.1:c.997A>C	XP_011519343.1:p.Asn333His
XM_011521041.2:c.997A>C	XP_011519343.1:p.Asn333His
XR_931529.1:n.3389A>C
XR_931530.1:n.3389A>C
XR_931531.1:n.3389A>C