Canonical Allele Identifier: CA621197295

Gene: ABCC6

Linked Data

• dbSNP Id: rs1223801181
• gnomAD v2: 16-16243916-C-T
• gnomAD v3: 16-16150059-C-T
• gnomAD v4: 16-16150059-C-T
• MyVariant Identifiers: chr16:g.16243916C>T (hg19) ; chr16:g.16150059C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150059C>T , CM000678.2:g.16150059C>T	GRCh38
NC_000016.9:g.16243916C>T , CM000678.1:g.16243916C>T	GRCh37
NC_000016.8:g.16151417C>T	NCBI36
NG_007558.2:g.78413G>A
NG_007558.3:g.78559G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.*758G>A	ENSP00000483331.2:n.*758G>A
ENST00000205557.12:c.*74G>A MANE Select	ENSP00000205557.7:n.*74G>A
ENST00000640696.1:c.1400G>A	ENSP00000492197.1:n.1400G>A
ENST00000205557.11:c.*74G>A	ENSP00000205557.7:n.*74G>A
ENST00000576204.5:n.1449G>A
ENST00000622290.4:c.*1795G>A	ENSP00000483331.1:n.*1795G>A
NM_001171.5:c.*74G>A	NP_001162.4:n.*74G>A
XM_011522479.1:c.*74G>A	XP_011520781.1:n.*74G>A
XM_011522480.1:c.*74G>A	XP_011520782.1:n.*74G>A
XM_011522481.1:c.*74G>A	XP_011520783.1:n.*74G>A
XR_933134.1:n.538+5769C>T
NM_001351800.1:c.*74G>A	NP_001338729.1:n.*74G>A
NR_147784.1:n.4248G>A
XM_011522479.2:c.*74G>A	XP_011520781.1:n.*74G>A
XM_011522481.3:c.*74G>A	XP_011520783.1:n.*74G>A
XM_017023212.1:c.*74G>A	XP_016878701.1:n.*74G>A
XM_024450261.1:c.*74G>A	XP_024306029.1:n.*74G>A
NM_001171.6:c.*74G>A MANE Select	NP_001162.5:n.*74G>A