Canonical Allele Identifier: CA975110701

Gene: ABCC6

Linked Data

• dbSNP Id: rs2046341048
• gnomAD v3: 16-16149918-G-A
• gnomAD v4: 16-16149918-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16149918G>A , CM000678.2:g.16149918G>A	GRCh38
NC_000016.9:g.16243775G>A , CM000678.1:g.16243775G>A	GRCh37
NC_000016.8:g.16151276G>A	NCBI36
NG_007558.2:g.78554C>T
NG_007558.3:g.78700C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*899C>T	ENSP00000483331.2:n.*899C>T
ENST00000205557.12:c.*215C>T MANE Select	ENSP00000205557.7:n.*215C>T
ENST00000640696.1:c.1541C>T	ENSP00000492197.1:n.1541C>T
ENST00000205557.11:c.*215C>T	ENSP00000205557.7:n.*215C>T
ENST00000576204.5:n.1590C>T
ENST00000622290.4:c.*1936C>T	ENSP00000483331.1:n.*1936C>T
NM_001171.5:c.*215C>T	NP_001162.4:n.*215C>T
XM_011522479.1:c.*215C>T	XP_011520781.1:n.*215C>T
XM_011522480.1:c.*215C>T	XP_011520782.1:n.*215C>T
XM_011522481.1:c.*215C>T	XP_011520783.1:n.*215C>T
XR_933134.1:n.538+5628G>A
NM_001351800.1:c.*215C>T	NP_001338729.1:n.*215C>T
NR_147784.1:n.4389C>T
XM_011522479.2:c.*215C>T	XP_011520781.1:n.*215C>T
XM_011522481.3:c.*215C>T	XP_011520783.1:n.*215C>T
XM_017023212.1:c.*215C>T	XP_016878701.1:n.*215C>T
XM_024450261.1:c.*215C>T	XP_024306029.1:n.*215C>T
NM_001171.6:c.*215C>T MANE Select	NP_001162.5:n.*215C>T