Canonical Allele Identifier: CA493797360

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16154978-C-A
• MyVariant Identifiers: chr16:g.16248835C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154978C>A , CM000678.2:g.16154978C>A	GRCh38
NC_000016.9:g.16248835C>A , CM000678.1:g.16248835C>A	GRCh37
NC_000016.8:g.16156336C>A	NCBI36
NG_007558.2:g.73494G>T
NG_007558.3:g.73640G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.799G>T
ENST00000622290.5:c.*108G>T	ENSP00000483331.2:n.*108G>T
ENST00000205557.12:c.3936G>T MANE Select	ENSP00000205557.7:p.Leu1312=
ENST00000640696.1:c.750G>T	ENSP00000492197.1:p.Leu250=
ENST00000205557.11:c.3936G>T	ENSP00000205557.7:p.Leu1312=
ENST00000456970.6:c.3561G>T	ENSP00000405002.2:n.3561G>T
ENST00000576204.5:n.799G>T
ENST00000622290.4:c.*1145G>T	ENSP00000483331.1:n.*1145G>T
NM_001171.5:c.3936G>T	NP_001162.4:p.Leu1312=
XM_011522479.1:c.3903G>T	XP_011520781.1:p.Leu1301=
XM_011522480.1:c.3594G>T	XP_011520782.1:p.Leu1198=
XM_011522481.1:c.3594G>T	XP_011520783.1:p.Leu1198=
XR_932836.1:n.4234G>T
XR_932837.1:n.3972G>T
XR_932838.1:n.4035G>T
XR_933134.1:n.539-4803C>A
NM_001351800.1:c.3594G>T	NP_001338729.1:p.Leu1198=
NR_147784.1:n.3598G>T
XM_011522479.2:c.3903G>T	XP_011520781.1:p.Leu1301=
XM_011522481.3:c.3594G>T	XP_011520783.1:p.Leu1198=
XM_017023212.1:c.3768G>T	XP_016878701.1:p.Leu1256=
XM_024450261.1:c.3972G>T	XP_024306029.1:p.Leu1324=
XR_932836.2:n.4180G>T
XR_932837.3:n.3917G>T
XR_932838.3:n.3980G>T
NM_001171.6:c.3936G>T MANE Select	NP_001162.5:p.Leu1312=