Canonical Allele Identifier: CA394878811

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 2010526
• ClinVar RCV Id: RCV002851060
• gnomAD v4: 16-16159546-G-A
• MyVariant Identifiers: chr16:g.16253403G>A (hg19) ; chr16:g.16159546G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159546G>A , CM000678.2:g.16159546G>A	GRCh38
NC_000016.9:g.16253403G>A , CM000678.1:g.16253403G>A	GRCh37
NC_000016.8:g.16160904G>A	NCBI36
NG_007558.2:g.68926C>T
NG_007558.3:g.69072C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3671C>T	ENSP00000483331.2:p.Thr1224Ile
ENST00000205557.12:c.3671C>T MANE Select	ENSP00000205557.7:p.Thr1224Ile
ENST00000640696.1:c.485C>T	ENSP00000492197.1:p.Thr162Ile
ENST00000205557.11:c.3671C>T	ENSP00000205557.7:p.Thr1224Ile
ENST00000456970.6:c.3296C>T	ENSP00000405002.2:n.3296C>T
ENST00000622290.4:c.*880C>T	ENSP00000483331.1:n.*880C>T
NM_001171.5:c.3671C>T	NP_001162.4:p.Thr1224Ile
XM_011522479.1:c.3638C>T	XP_011520781.1:p.Thr1213Ile
XM_011522480.1:c.3329C>T	XP_011520782.1:p.Thr1110Ile
XM_011522481.1:c.3329C>T	XP_011520783.1:p.Thr1110Ile
XR_932836.1:n.3906C>T
XR_932837.1:n.3707C>T
XR_932838.1:n.3707C>T
XR_933134.1:n.539-235G>A
NM_001351800.1:c.3329C>T	NP_001338729.1:p.Thr1110Ile
NR_147784.1:n.3333C>T
XM_011522479.2:c.3638C>T	XP_011520781.1:p.Thr1213Ile
XM_011522481.3:c.3329C>T	XP_011520783.1:p.Thr1110Ile
XM_017023212.1:c.3503C>T	XP_016878701.1:p.Thr1168Ile
XM_024450261.1:c.3707C>T	XP_024306029.1:p.Thr1236Ile
XR_932836.2:n.3852C>T
XR_932837.3:n.3652C>T
XR_932838.3:n.3652C>T
NM_001171.6:c.3671C>T MANE Select	NP_001162.5:p.Thr1224Ile