Canonical Allele Identifier: CA7925789

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1591523
• ClinVar RCV Id: RCV002096248
• dbSNP Id: rs557287313
• ExAC: 16:16267133 G / A
• gnomAD v2: 16-16267133-G-A
• gnomAD v3: 16-16173276-G-A
• gnomAD v4: 16-16173276-G-A
• MyVariant Identifiers: chr16:g.16267133G>A (hg19) ; chr16:g.16173276G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16173276G>A , CM000678.2:g.16173276G>A	GRCh38
NC_000016.9:g.16267133G>A , CM000678.1:g.16267133G>A	GRCh37
NC_000016.8:g.16174634G>A	NCBI36
NG_007558.2:g.55196C>T
NG_007558.3:g.55342C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.2787+8C>T	ENSP00000483331.2:n.2787+8C>T
ENST00000205557.12:c.2787+8C>T MANE Select	ENSP00000205557.7:n.2787+8C>T
ENST00000205557.11:c.2787+8C>T	ENSP00000205557.7:n.2787+8C>T
ENST00000456970.6:c.2612+8C>T	ENSP00000405002.2:n.2612+8C>T
ENST00000576683.1:n.282C>T
ENST00000622290.4:c.2612+8C>T	ENSP00000483331.1:n.2612+8C>T
NM_001171.5:c.2787+8C>T	NP_001162.4:n.2787+8C>T
XM_011522479.1:c.2754+8C>T	XP_011520781.1:n.2754+8C>T
XM_011522480.1:c.2445+8C>T	XP_011520782.1:n.2445+8C>T
XM_011522481.1:c.2445+8C>T	XP_011520783.1:n.2445+8C>T
XR_932836.1:n.3022+8C>T
XR_932837.1:n.3023+8C>T
XR_932838.1:n.3023+8C>T
NM_001351800.1:c.2445+8C>T	NP_001338729.1:n.2445+8C>T
NR_147784.1:n.2649+8C>T
XM_011522479.2:c.2754+8C>T	XP_011520781.1:n.2754+8C>T
XM_011522481.3:c.2445+8C>T	XP_011520783.1:n.2445+8C>T
XM_017023212.1:c.2619+8C>T	XP_016878701.1:n.2619+8C>T
XM_017023214.1:c.2787+8C>T	XP_016878703.1:n.2787+8C>T
XM_024450261.1:c.2823+8C>T	XP_024306029.1:n.2823+8C>T
XR_932836.2:n.2968+8C>T
XR_932837.3:n.2968+8C>T
XR_932838.3:n.2968+8C>T
NM_001171.6:c.2787+8C>T MANE Select	NP_001162.5:n.2787+8C>T