Canonical Allele Identifier: CA7925199

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 3022821
• ClinVar RCV Id: RCV003882007
• dbSNP Id: rs748804392
• ExAC: 16:16244418 C / T
• gnomAD v2: 16-16244418-C-T
• gnomAD v3: 16-16150561-C-T
• gnomAD v4: 16-16150561-C-T
• MyVariant Identifiers: chr16:g.16244418C>T (hg19) ; chr16:g.16150561C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150561C>T , CM000678.2:g.16150561C>T	GRCh38
NC_000016.9:g.16244418C>T , CM000678.1:g.16244418C>T	GRCh37
NC_000016.8:g.16151919C>T	NCBI36
NG_007558.2:g.77911G>A
NG_007558.3:g.78057G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*575+17G>A	ENSP00000483331.2:n.*575+17G>A
ENST00000205557.12:c.4403+17G>A MANE Select	ENSP00000205557.7:n.4403+17G>A
ENST00000640696.1:c.1217+17G>A	ENSP00000492197.1:n.1217+17G>A
ENST00000205557.11:c.4403+17G>A	ENSP00000205557.7:n.4403+17G>A
ENST00000456970.6:c.4028+17G>A	ENSP00000405002.2:n.4028+17G>A
ENST00000576204.5:n.1266+17G>A
ENST00000622290.4:c.*1612+17G>A	ENSP00000483331.1:n.*1612+17G>A
NM_001171.5:c.4403+17G>A	NP_001162.4:n.4403+17G>A
XM_011522479.1:c.4370+17G>A	XP_011520781.1:n.4370+17G>A
XM_011522480.1:c.4061+17G>A	XP_011520782.1:n.4061+17G>A
XM_011522481.1:c.4061+17G>A	XP_011520783.1:n.4061+17G>A
XR_933134.1:n.538+6271C>T
NM_001351800.1:c.4061+17G>A	NP_001338729.1:n.4061+17G>A
NR_147784.1:n.4065+17G>A
XM_011522479.2:c.4370+17G>A	XP_011520781.1:n.4370+17G>A
XM_011522481.3:c.4061+17G>A	XP_011520783.1:n.4061+17G>A
XM_017023212.1:c.4235+17G>A	XP_016878701.1:n.4235+17G>A
XM_024450261.1:c.4439+17G>A	XP_024306029.1:n.4439+17G>A
NM_001171.6:c.4403+17G>A MANE Select	NP_001162.5:n.4403+17G>A