Canonical Allele Identifier: CA7925384

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 716814
• ClinVar RCV Id: RCV000889518 ; RCV004530958
• dbSNP Id: rs61097521
• ExAC: 16:16248895 G / A
• gnomAD v2: 16-16248895-G-A
• gnomAD v3: 16-16155038-G-A
• gnomAD v4: 16-16155038-G-A
• MyVariant Identifiers: chr16:g.16248895G>A (hg19) ; chr16:g.16155038G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155038G>A , CM000678.2:g.16155038G>A	GRCh38
NC_000016.9:g.16248895G>A , CM000678.1:g.16248895G>A	GRCh37
NC_000016.8:g.16156396G>A	NCBI36
NG_007558.2:g.73434C>T
NG_007558.3:g.73580C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.739C>T
ENST00000622290.5:c.*55-7C>T	ENSP00000483331.2:n.*55-7C>T
ENST00000205557.12:c.3883-7C>T MANE Select	ENSP00000205557.7:n.3883-7C>T
ENST00000640696.1:c.697-7C>T	ENSP00000492197.1:n.697-7C>T
ENST00000205557.11:c.3883-7C>T	ENSP00000205557.7:n.3883-7C>T
ENST00000456970.6:c.3508-7C>T	ENSP00000405002.2:n.3508-7C>T
ENST00000576204.5:n.739C>T
ENST00000622290.4:c.*1092-7C>T	ENSP00000483331.1:n.*1092-7C>T
NM_001171.5:c.3883-7C>T	NP_001162.4:n.3883-7C>T
XM_011522479.1:c.3850-7C>T	XP_011520781.1:n.3850-7C>T
XM_011522480.1:c.3541-7C>T	XP_011520782.1:n.3541-7C>T
XM_011522481.1:c.3541-7C>T	XP_011520783.1:n.3541-7C>T
XR_932836.1:n.4181-7C>T
XR_932837.1:n.3919-7C>T
XR_932838.1:n.3982-7C>T
XR_933134.1:n.539-4743G>A
NM_001351800.1:c.3541-7C>T	NP_001338729.1:n.3541-7C>T
NR_147784.1:n.3545-7C>T
XM_011522479.2:c.3850-7C>T	XP_011520781.1:n.3850-7C>T
XM_011522481.3:c.3541-7C>T	XP_011520783.1:n.3541-7C>T
XM_017023212.1:c.3715-7C>T	XP_016878701.1:n.3715-7C>T
XM_024450261.1:c.3919-7C>T	XP_024306029.1:n.3919-7C>T
XR_932836.2:n.4127-7C>T
XR_932837.3:n.3864-7C>T
XR_932838.3:n.3927-7C>T
NM_001171.6:c.3883-7C>T MANE Select	NP_001162.5:n.3883-7C>T