Canonical Allele Identifier: CA718586348

Gene: ABCC6

Linked Data

• dbSNP Id: rs1037256636
• MyVariant Identifiers: chr16:g.16243794C>T (hg19) ; chr16:g.16149937C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16149937C>T , CM000678.2:g.16149937C>T	GRCh38
NC_000016.9:g.16243794C>T , CM000678.1:g.16243794C>T	GRCh37
NC_000016.8:g.16151295C>T	NCBI36
NG_007558.2:g.78535G>A
NG_007558.3:g.78681G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*880G>A	ENSP00000483331.2:n.*880G>A
ENST00000205557.12:c.*196G>A MANE Select	ENSP00000205557.7:n.*196G>A
ENST00000640696.1:c.1522G>A	ENSP00000492197.1:n.1522G>A
ENST00000205557.11:c.*196G>A	ENSP00000205557.7:n.*196G>A
ENST00000576204.5:n.1571G>A
ENST00000622290.4:c.*1917G>A	ENSP00000483331.1:n.*1917G>A
NM_001171.5:c.*196G>A	NP_001162.4:n.*196G>A
XM_011522479.1:c.*196G>A	XP_011520781.1:n.*196G>A
XM_011522480.1:c.*196G>A	XP_011520782.1:n.*196G>A
XM_011522481.1:c.*196G>A	XP_011520783.1:n.*196G>A
XR_933134.1:n.538+5647C>T
NM_001351800.1:c.*196G>A	NP_001338729.1:n.*196G>A
NR_147784.1:n.4370G>A
XM_011522479.2:c.*196G>A	XP_011520781.1:n.*196G>A
XM_011522481.3:c.*196G>A	XP_011520783.1:n.*196G>A
XM_017023212.1:c.*196G>A	XP_016878701.1:n.*196G>A
XM_024450261.1:c.*196G>A	XP_024306029.1:n.*196G>A
NM_001171.6:c.*196G>A MANE Select	NP_001162.5:n.*196G>A