Canonical Allele Identifier: CA7926377

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 2533314
• ClinVar RCV Id: RCV003286344
• dbSNP Id: rs563862970
• ExAC: 16:16291919 G / A
• gnomAD v2: 16-16291919-G-A
• gnomAD v3: 16-16198062-G-A
• gnomAD v4: 16-16198062-G-A
• MyVariant Identifiers: chr16:g.16291919G>A (hg19) ; chr16:g.16198062G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16198062G>A , CM000678.2:g.16198062G>A	GRCh38
NC_000016.9:g.16291919G>A , CM000678.1:g.16291919G>A	GRCh37
NC_000016.8:g.16199420G>A	NCBI36
NG_007558.2:g.30410C>T
NG_007558.3:g.30556C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.1297C>T	ENSP00000507301.1:p.Pro433Ser
ENST00000622290.5:c.1297C>T	ENSP00000483331.2:p.Pro433Ser
ENST00000205557.12:c.1297C>T MANE Select	ENSP00000205557.7:p.Pro433Ser
ENST00000205557.11:c.1297C>T	ENSP00000205557.7:p.Pro433Ser
ENST00000456970.6:c.1297C>T	ENSP00000405002.2:p.Pro433Ser
ENST00000574094.5:n.1393C>T
ENST00000622290.4:c.1297C>T	ENSP00000483331.1:p.Pro433Ser
NM_001171.5:c.1297C>T	NP_001162.4:p.Pro433Ser
XM_011522479.1:c.1297C>T	XP_011520781.1:p.Pro433Ser
XM_011522480.1:c.955C>T	XP_011520782.1:p.Pro319Ser
XM_011522481.1:c.955C>T	XP_011520783.1:p.Pro319Ser
XM_011522482.1:c.1297C>T	XP_011520784.1:p.Pro433Ser
XR_932836.1:n.1532C>T
XR_932837.1:n.1533C>T
XR_932838.1:n.1533C>T
NM_001351800.1:c.955C>T	NP_001338729.1:p.Pro319Ser
NR_147784.1:n.1334C>T
XM_011522479.2:c.1297C>T	XP_011520781.1:p.Pro433Ser
XM_011522481.3:c.955C>T	XP_011520783.1:p.Pro319Ser
XM_011522482.3:c.1297C>T	XP_011520784.1:p.Pro433Ser
XM_017023212.1:c.1297C>T	XP_016878701.1:p.Pro433Ser
XM_017023214.1:c.1297C>T	XP_016878703.1:p.Pro433Ser
XM_024450261.1:c.1333C>T	XP_024306029.1:p.Pro445Ser
XR_932836.2:n.1478C>T
XR_932837.3:n.1478C>T
XR_932838.3:n.1478C>T
NM_001171.6:c.1297C>T MANE Select	NP_001162.5:p.Pro433Ser