Canonical Allele Identifier: CA7926406

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 2056032
• ClinVar RCV Id: RCV002947395
• dbSNP Id: rs576483544
• ExAC: 16:16292001 C / T
• gnomAD v2: 16-16292001-C-T
• gnomAD v3: 16-16198144-C-T
• gnomAD v4: 16-16198144-C-T
• MyVariant Identifiers: chr16:g.16292001C>T (hg19) ; chr16:g.16198144C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16198144C>T , CM000678.2:g.16198144C>T	GRCh38
NC_000016.9:g.16292001C>T , CM000678.1:g.16292001C>T	GRCh37
NC_000016.8:g.16199502C>T	NCBI36
NG_007558.2:g.30328G>A
NG_007558.3:g.30474G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.1215G>A	ENSP00000507301.1:p.Ala405=
ENST00000622290.5:c.1215G>A	ENSP00000483331.2:p.Ala405=
ENST00000205557.12:c.1215G>A MANE Select	ENSP00000205557.7:p.Ala405=
ENST00000205557.11:c.1215G>A	ENSP00000205557.7:p.Ala405=
ENST00000456970.6:c.1215G>A	ENSP00000405002.2:p.Ala405=
ENST00000574094.5:n.1311G>A
ENST00000622290.4:c.1215G>A	ENSP00000483331.1:p.Ala405=
NM_001171.5:c.1215G>A	NP_001162.4:p.Ala405=
XM_011522479.1:c.1215G>A	XP_011520781.1:p.Ala405=
XM_011522480.1:c.873G>A	XP_011520782.1:p.Ala291=
XM_011522481.1:c.873G>A	XP_011520783.1:p.Ala291=
XM_011522482.1:c.1215G>A	XP_011520784.1:p.Ala405=
XR_932836.1:n.1450G>A
XR_932837.1:n.1451G>A
XR_932838.1:n.1451G>A
NM_001351800.1:c.873G>A	NP_001338729.1:p.Ala291=
NR_147784.1:n.1252G>A
XM_011522479.2:c.1215G>A	XP_011520781.1:p.Ala405=
XM_011522481.3:c.873G>A	XP_011520783.1:p.Ala291=
XM_011522482.3:c.1215G>A	XP_011520784.1:p.Ala405=
XM_017023212.1:c.1215G>A	XP_016878701.1:p.Ala405=
XM_017023214.1:c.1215G>A	XP_016878703.1:p.Ala405=
XM_024450261.1:c.1251G>A	XP_024306029.1:p.Ala417=
XR_932836.2:n.1396G>A
XR_932837.3:n.1396G>A
XR_932838.3:n.1396G>A
NM_001171.6:c.1215G>A MANE Select	NP_001162.5:p.Ala405=