Canonical Allele Identifier: CA394884921

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16169801-C-T
• MyVariant Identifiers: chr16:g.16263658C>T (hg19) ; chr16:g.16169801C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169801C>T , CM000678.2:g.16169801C>T	GRCh38
NC_000016.9:g.16263658C>T , CM000678.1:g.16263658C>T	GRCh37
NC_000016.8:g.16171159C>T	NCBI36
NG_007558.2:g.58671G>A
NG_007558.3:g.58817G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2840G>A	ENSP00000483331.2:p.Cys947Tyr
ENST00000205557.12:c.2840G>A MANE Select	ENSP00000205557.7:p.Cys947Tyr
ENST00000205557.11:c.2840G>A	ENSP00000205557.7:p.Cys947Tyr
ENST00000456970.6:c.2665G>A	ENSP00000405002.2:n.2665G>A
ENST00000622290.4:c.*49G>A	ENSP00000483331.1:n.*49G>A
NM_001171.5:c.2840G>A	NP_001162.4:p.Cys947Tyr
XM_011522479.1:c.2807G>A	XP_011520781.1:p.Cys936Tyr
XM_011522480.1:c.2498G>A	XP_011520782.1:p.Cys833Tyr
XM_011522481.1:c.2498G>A	XP_011520783.1:p.Cys833Tyr
XR_932836.1:n.3075G>A
XR_932837.1:n.3076G>A
XR_932838.1:n.3076G>A
NM_001351800.1:c.2498G>A	NP_001338729.1:p.Cys833Tyr
NR_147784.1:n.2702G>A
XM_011522479.2:c.2807G>A	XP_011520781.1:p.Cys936Tyr
XM_011522481.3:c.2498G>A	XP_011520783.1:p.Cys833Tyr
XM_017023212.1:c.2672G>A	XP_016878701.1:p.Cys891Tyr
XM_017023214.1:c.2840G>A	XP_016878703.1:p.Cys947Tyr
XM_024450261.1:c.2876G>A	XP_024306029.1:p.Cys959Tyr
XR_932836.2:n.3021G>A
XR_932837.3:n.3021G>A
XR_932838.3:n.3021G>A
NM_001171.6:c.2840G>A MANE Select	NP_001162.5:p.Cys947Tyr