Canonical Allele Identifier: CA7925143

Gene: ABCC6

Linked Data

• dbSNP Id: rs190110936
• ExAC: 16:16243965 C / A
• gnomAD v2: 16-16243965-C-A
• gnomAD v3: 16-16150108-C-A
• gnomAD v4: 16-16150108-C-A
• MyVariant Identifiers: chr16:g.16243965C>A (hg19) ; chr16:g.16150108C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150108C>A , CM000678.2:g.16150108C>A	GRCh38
NC_000016.9:g.16243965C>A , CM000678.1:g.16243965C>A	GRCh37
NC_000016.8:g.16151466C>A	NCBI36
NG_007558.2:g.78364G>T
NG_007558.3:g.78510G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*709G>T	ENSP00000483331.2:n.*709G>T
ENST00000205557.12:c.*25G>T MANE Select	ENSP00000205557.7:n.*25G>T
ENST00000640696.1:c.1351G>T	ENSP00000492197.1:n.1351G>T
ENST00000205557.11:c.*25G>T	ENSP00000205557.7:n.*25G>T
ENST00000576204.5:n.1400G>T
ENST00000622290.4:c.*1746G>T	ENSP00000483331.1:n.*1746G>T
NM_001171.5:c.*25G>T	NP_001162.4:n.*25G>T
XM_011522479.1:c.*25G>T	XP_011520781.1:n.*25G>T
XM_011522480.1:c.*25G>T	XP_011520782.1:n.*25G>T
XM_011522481.1:c.*25G>T	XP_011520783.1:n.*25G>T
XR_933134.1:n.538+5818C>A
NM_001351800.1:c.*25G>T	NP_001338729.1:n.*25G>T
NR_147784.1:n.4199G>T
XM_011522479.2:c.*25G>T	XP_011520781.1:n.*25G>T
XM_011522481.3:c.*25G>T	XP_011520783.1:n.*25G>T
XM_017023212.1:c.*25G>T	XP_016878701.1:n.*25G>T
XM_024450261.1:c.*25G>T	XP_024306029.1:n.*25G>T
NM_001171.6:c.*25G>T MANE Select	NP_001162.5:n.*25G>T