Canonical Allele Identifier: CA394883664

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433516
• ClinVar RCV Id: RCV000499281
• dbSNP Id: rs1006994885
• gnomAD v2: 16-16244434-C-A
• gnomAD v3: 16-16150577-C-A
• gnomAD v4: 16-16150577-C-A
• MyVariant Identifiers: chr16:g.16244434C>A (hg19) ; chr16:g.16150577C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150577C>A , CM000678.2:g.16150577C>A	GRCh38
NC_000016.9:g.16244434C>A , CM000678.1:g.16244434C>A	GRCh37
NC_000016.8:g.16151935C>A	NCBI36
NG_007558.2:g.77895G>T
NG_007558.3:g.78041G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*575+1G>T	ENSP00000483331.2:n.*575+1G>T
ENST00000205557.12:c.4403+1G>T MANE Select	ENSP00000205557.7:n.4403+1G>T
ENST00000640696.1:c.1217+1G>T	ENSP00000492197.1:n.1217+1G>T
ENST00000205557.11:c.4403+1G>T	ENSP00000205557.7:n.4403+1G>T
ENST00000456970.6:c.4028+1G>T	ENSP00000405002.2:n.4028+1G>T
ENST00000576204.5:n.1266+1G>T
ENST00000622290.4:c.*1612+1G>T	ENSP00000483331.1:n.*1612+1G>T
NM_001171.5:c.4403+1G>T	NP_001162.4:n.4403+1G>T
XM_011522479.1:c.4370+1G>T	XP_011520781.1:n.4370+1G>T
XM_011522480.1:c.4061+1G>T	XP_011520782.1:n.4061+1G>T
XM_011522481.1:c.4061+1G>T	XP_011520783.1:n.4061+1G>T
XR_933134.1:n.538+6287C>A
NM_001351800.1:c.4061+1G>T	NP_001338729.1:n.4061+1G>T
NR_147784.1:n.4065+1G>T
XM_011522479.2:c.4370+1G>T	XP_011520781.1:n.4370+1G>T
XM_011522481.3:c.4061+1G>T	XP_011520783.1:n.4061+1G>T
XM_017023212.1:c.4235+1G>T	XP_016878701.1:n.4235+1G>T
XM_024450261.1:c.4439+1G>T	XP_024306029.1:n.4439+1G>T
NM_001171.6:c.4403+1G>T MANE Select	NP_001162.5:n.4403+1G>T